Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_assertion> ?p ?o ?g. }
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- NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_assertion type Assertion NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_head.
- NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_assertion description "[In this large series, HNF4A mutations are the third most common cause of diazoxide responsive HH. We recommend that HNF4A sequencing is considered in all patients with diazoxide responsive HH diagnosed in the first week of life irrespective of a family hi]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_provenance.
- NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_assertion evidence source_evidence_literature NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_provenance.
- NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_assertion SIO_000772 20164212 NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_provenance.
- NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_assertion wasDerivedFrom gad-20150221 NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_provenance.
- NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_assertion wasGeneratedBy ECO_0000203 NP164741.RAsHlPFZZQMTOYQO8bm3HLKgkhD-JPNtbK_uYFtP2ENqI130_provenance.