Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_assertion> ?p ?o ?g. }
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- NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_assertion type Assertion NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_head.
- NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_assertion wasGeneratedBy ECO_0000203 NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_provenance.
- NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_assertion wasDerivedFrom befree-20150227 NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_provenance.
- NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_assertion SIO_000772 15888793 NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_provenance.
- NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_assertion evidence source_evidence_literature NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_provenance.
- NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_assertion description "[Homozygous mutations in the ATP8B1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (gamma-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis (BRIC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP616510.RAFx9vIpk0J1NiRA5rDhZVgBkVFUbRYneGAK_yUHhffWQ130_provenance.