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- source_evidence_literature type ECO_0000212 NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_provenance.
- NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_assertion description "[We report (1) identification of a set of amplification primers for the 31 exons of ABCC6; (2) identification of the ABCC6 R>X1164 nonsense mutation in the PXE subject with dyslipidemia; (3) identification of common amino acid variants and silent nucleotide variants in ABCC6, with a range of allele frequencies across ethnic groups; (4) evidence consistent with a possible pseudogene encoding 9 exons with sequence homology to ABCC6; and (5) association of the ABCC6 R>Q1268 variant with plasma triglyceride and HDL cholesterol.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_provenance.
- NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_assertion evidence source_evidence_literature NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_provenance.
- NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_assertion SIO_000772 11776382 NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_provenance.
- NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_assertion wasDerivedFrom befree-2016 NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_provenance.
- NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_assertion wasGeneratedBy ECO_0000203 NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_provenance.
- befree-2016 importedOn "2016-02-19" NP341133.RAN9Xiu7lXZHY3-byutL_xpLzE36Lj0lGYSK2_XMd2_v8130_provenance.