Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_assertion type Assertion NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_head.
- NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_assertion wasGeneratedBy ECO_0000203 NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_provenance.
- NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_assertion wasDerivedFrom befree-20150227 NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_provenance.
- NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_assertion SIO_000772 15001636 NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_provenance.
- NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_assertion evidence source_evidence_literature NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_provenance.
- NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_assertion description "[In this report, we found a novel missense mutation in the HNF-1 beta gene in a patient with neonatal cholestasis and liver dysfunction together with the common features of MODY5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP725142.RA500TRvTHsJr63ArenP2cVIA_4nIkD-O7hks8sGgwepA130_provenance.