Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_assertion> ?p ?o ?g. }
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- NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_assertion type Assertion NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_head.
- NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_assertion description "[FIC1-defective progressive familial intrahepatic cholestasis (previously Byler disease) is determined by mutations in the FIC1 gene, coding for P-type ATPases of unknown physiological function, while a second form (bile salt export pump defective progressive familial intrahepatic cholestatis) is caused by a defective function of the canalicular bile salt export pump.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_provenance.
- NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_assertion evidence source_evidence_literature NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_provenance.
- NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_assertion SIO_000772 10975791 NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_provenance.
- NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_assertion wasDerivedFrom befree-20140225 NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_provenance.
- NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_assertion wasGeneratedBy ECO_0000203 NP209356.RANZrSrDXZeZ_CXNLeBLg8KLeUWC7gm7TkMYgzvJ4gA6w130_provenance.