Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_assertion> ?p ?o ?g. }
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- NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_assertion type Assertion NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_head.
- NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_assertion description "[Here, we report on male siblings with hypospadias and their asymptomatic father in whom we identified a heterozygous NR5A1 mutation of c.910G>A, p.E304K.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_provenance.
- NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_assertion evidence source_evidence_literature NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_provenance.
- NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_assertion SIO_000772 25502990 NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_provenance.
- NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_assertion wasDerivedFrom befree-2016 NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_provenance.
- NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_assertion wasGeneratedBy ECO_0000203 NP1247806.RAA6LIEFPNdiE0dtmvkr9lIw_1DCqtDbp1YeLbQCCNl-Q130_provenance.