Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion type Assertion NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_head.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion wasGeneratedBy ECO_0000203 NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion wasDerivedFrom befree-2016 NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion SIO_000772 15001636 NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_assertion evidence source_evidence_literature NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.
- NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_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." NP434318.RAkRNcoKhE6FIHjnDdXb1_EVEo74GpAFYAYf044SQnzJY130_provenance.