Matches in Nanopublications for { ?s ?p "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP262938.RAWJFE_9W4ysUAnsN21qsQACl0jgGslf8_h6vp8YJdlGk130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP262938.RAWJFE_9W4ysUAnsN21qsQACl0jgGslf8_h6vp8YJdlGk130_provenance.
- NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_provenance.
- NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.
- NP387945.RAoRiGE2OK8RGulf94nICvOAF0EXR4w7CqcnyGygAWZYE130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP387945.RAoRiGE2OK8RGulf94nICvOAF0EXR4w7CqcnyGygAWZYE130_provenance.
- NP701080.RAj7sLwNoPTQwRFC0z8Pv8xZrCjuYJ9iqTp702GvS_C7c130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP701080.RAj7sLwNoPTQwRFC0z8Pv8xZrCjuYJ9iqTp702GvS_C7c130_provenance.
- NP725986.RArB2Ki9UiQ7oE8FK81hQiREbMUqvYGMg2_aRIV3XIl5A130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP725986.RArB2Ki9UiQ7oE8FK81hQiREbMUqvYGMg2_aRIV3XIl5A130_provenance.
- NP638407.RAo6Ga3W4gLH6WQxvV3mJ4JnK6mwWnaYH0r4MwjgpTB2Y130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP638407.RAo6Ga3W4gLH6WQxvV3mJ4JnK6mwWnaYH0r4MwjgpTB2Y130_provenance.
- NP313710.RA5S0HIW8XOkenxmLSrExUw26wnO1nyDZJT9gg7-5B7iA130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP313710.RA5S0HIW8XOkenxmLSrExUw26wnO1nyDZJT9gg7-5B7iA130_provenance.
- NP259415.RAOWLc1f-5nxoL3bguo0rYc8m4Yw9DLWJIwV0MS76ZYgY130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP259415.RAOWLc1f-5nxoL3bguo0rYc8m4Yw9DLWJIwV0MS76ZYgY130_provenance.
- NP627818.RA5Kdkqa5vRhFer6kHzVeFQjr9M_36wzRa7RouQACuckw130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP627818.RA5Kdkqa5vRhFer6kHzVeFQjr9M_36wzRa7RouQACuckw130_provenance.
- assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP225932.RAa6H9UlKudxOhsS0oyx5HQ83bc2wsnoXsl9wrd8JmHO8130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP225932.RAa6H9UlKudxOhsS0oyx5HQ83bc2wsnoXsl9wrd8JmHO8130_provenance.
- NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_provenance.
- NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_provenance.
- NP720322.RAcc8Hi3PZPGxPisEIGBSfMZjheEsRV9wM9d1P19FVnVo130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP720322.RAcc8Hi3PZPGxPisEIGBSfMZjheEsRV9wM9d1P19FVnVo130_provenance.
- assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP494935.RABYeqhLsUReVYnPwKgq-yd6nEgvo2H1pb5NFD2JslStM130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494935.RABYeqhLsUReVYnPwKgq-yd6nEgvo2H1pb5NFD2JslStM130_provenance.
- NP319497.RAoZqTthzoZtd6eWyzcTqUlHpMVZRcQSd1pCVnxLN_m-Y130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319497.RAoZqTthzoZtd6eWyzcTqUlHpMVZRcQSd1pCVnxLN_m-Y130_provenance.
- NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.
- NP494936.RATDavvJZiWnzDfrpjoMpc3MBNDLOb70RAFQWUdhKgraI130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494936.RATDavvJZiWnzDfrpjoMpc3MBNDLOb70RAFQWUdhKgraI130_provenance.
- NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.
- NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.
- NP225837.RAq0O2x13j3DqILXUplse3hvgLLJRdzbC1_aT5RhUNq1I130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP225837.RAq0O2x13j3DqILXUplse3hvgLLJRdzbC1_aT5RhUNq1I130_provenance.
- NP494931.RAos1YHFX9FwjaJMMSyaIa9hQprQ56jPn8NN1UpNPqlyE130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494931.RAos1YHFX9FwjaJMMSyaIa9hQprQ56jPn8NN1UpNPqlyE130_provenance.
- NP494933.RAsyi4dA6jZ8_erNdpBLr0T6VPg1_DTwTJ-Fd8fOqFwdg130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494933.RAsyi4dA6jZ8_erNdpBLr0T6VPg1_DTwTJ-Fd8fOqFwdg130_provenance.
- NP494941.RAqPIdkvWNPRThXkOSXWwqZ-_8NfYqPAc5vTF_tOuNGXs130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494941.RAqPIdkvWNPRThXkOSXWwqZ-_8NfYqPAc5vTF_tOuNGXs130_provenance.
- NP319587.RA6QgI7sraB35k_oKydQ6n12V5Tmm57anf9qiwdkXEFCE130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319587.RA6QgI7sraB35k_oKydQ6n12V5Tmm57anf9qiwdkXEFCE130_provenance.
- NP319448.RAJP0rQXrnrp92SwUjFH2r2Yx0e8fQkMKRMdUtLnkrKoY130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319448.RAJP0rQXrnrp92SwUjFH2r2Yx0e8fQkMKRMdUtLnkrKoY130_provenance.
- NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_provenance.
- NP494934.RAH5fLkpd4_kTGJM7nszKSahdBHxfOaCdiBBAetQaAEPw130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494934.RAH5fLkpd4_kTGJM7nszKSahdBHxfOaCdiBBAetQaAEPw130_provenance.
- NP494930.RA4UlnqY8DsY1PLy6Ws1kxv3_7p4Av1JjpM-zDV6uFb1o130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494930.RA4UlnqY8DsY1PLy6Ws1kxv3_7p4Av1JjpM-zDV6uFb1o130_provenance.
- NP494939.RAzWztTdMI_7IHu1QVnEGjljvPtQgsudZqsmOFvNEsdNY130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494939.RAzWztTdMI_7IHu1QVnEGjljvPtQgsudZqsmOFvNEsdNY130_provenance.