Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance.
- NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion description "[All four mutations lie within conserved regions of the gene and cause translational frameshifts, resulting in gross alterations of the protein product Patients with cytogenetically detectable deletions including JAG1 have Alagille syndrome, supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagille syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance.
- NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion evidence source_evidence_curated NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance.
- NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion SIO_000772 9207788 NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance.
- NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion wasDerivedFrom ctd_human-20130708 NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance.
- NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_assertion wasGeneratedBy ECO_0000218 NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP20619.RA_D9SQHuM0vC0g37jwrtUh1WYBOOqOwZJiU20Qs8G4fw130_provenance.