Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_assertion> ?p ?o ?g. }
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- NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_assertion type Assertion NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_head.
- NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_assertion wasGeneratedBy ECO_0000203 NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_provenance.
- NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_assertion wasDerivedFrom befree-20140225 NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_provenance.
- NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_assertion SIO_000772 15888793 NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_provenance.
- NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_assertion evidence source_evidence_literature NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_provenance.
- NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_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." NP578554.RASe-mFYwP9AgLC0CG95dKsvfAr_0VHYYV1bo9EJtZ7gI130_provenance.