Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_assertion> ?p ?o ?g. }
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- NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_assertion type Assertion NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_head.
- NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_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." NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_provenance.
- NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_assertion evidence source_evidence_literature NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_provenance.
- NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_assertion SIO_000772 17241866 NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_provenance.
- NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_assertion wasDerivedFrom befree-2016 NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_provenance.
- NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_assertion wasGeneratedBy ECO_0000203 NP590027.RA2h_3sQfC91VBIWhhRVY2qC-lJ3f0rzEX5OI-ObCmHL8130_provenance.