Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_assertion> ?p ?o ?g. }
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- NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_assertion type Assertion NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_head.
- NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_assertion description "[Inherited syndromes of intrahepatic cholestasis commonly result from mutations in the genes SERPINA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (progressive familial intrahepatic cholestasis type 1 [PFIC1]), ABCB11 (PFIC2), and ABCB4 (PFIC3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_provenance.
- NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_assertion evidence source_evidence_literature NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_provenance.
- NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_assertion SIO_000772 17241866 NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_provenance.
- NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_assertion wasDerivedFrom befree-2016 NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_provenance.
- NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_assertion wasGeneratedBy ECO_0000203 NP590033.RA1LUlH3uyv4lQnN64k-9LkAdlTgEakCQ0w04Aj13CU-w130_provenance.