Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_assertion> ?p ?o ?g. }
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- NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_assertion type Assertion NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_head.
- NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_assertion wasGeneratedBy ECO_0000203 NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_provenance.
- NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_assertion wasDerivedFrom lhgdn-20090331 NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_provenance.
- NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_assertion SIO_000772 12730697 NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_provenance.
- NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_assertion evidence source_evidence_literature NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_provenance.
- NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_assertion description "[two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause autosomal dominant hypercholesterolemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP197922.RA5Hg2P2iYQ_ed-I5Om1ZQxmgPwQvMiom68b5J3BarSoM130_provenance.