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- source_evidence_literature type ECO_0000212 NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_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.
- NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_assertion evidence source_evidence_literature NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_provenance.
- NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_assertion SIO_000772 15895462 NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_provenance.
- NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_assertion wasDerivedFrom befree-20140225 NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_provenance.
- NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_assertion wasGeneratedBy ECO_0000203 NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_provenance.
- befree-20140225 importedOn "2014-02-25" NP234927.RAB-yBiOOFdfhCvK_e-0x0-E_EhSFrjgpGJH-gqsfvZ94130_provenance.