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- source_evidence_literature type ECO_0000212 NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_provenance.
- NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_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." NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_provenance.
- NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_assertion evidence source_evidence_literature NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_provenance.
- NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_assertion SIO_000772 17241866 NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_provenance.
- NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_assertion wasDerivedFrom befree-2016 NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_provenance.
- NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_assertion wasGeneratedBy ECO_0000203 NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_provenance.
- befree-2016 importedOn "2016-02-19" NP590031.RAvFiaXJAbEQYl2SAVGTBm_a4a3COtStLFRXlfyOfucxc130_provenance.