Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_assertion> ?p ?o ?g. }
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- NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_assertion type Assertion NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_head.
- NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_assertion wasGeneratedBy ECO_0000203 NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_provenance.
- NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_assertion wasDerivedFrom befree-2016 NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_provenance.
- NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_assertion SIO_000772 15888793 NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_provenance.
- NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_assertion evidence source_evidence_literature NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_provenance.
- NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_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." NP494414.RABA-9VPOKc2biZCJy1h9k2on9MR7p0sguH_fdMDba2UA130_provenance.