Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_assertion> ?p ?o ?g. }
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- NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_assertion type Assertion NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_head.
- NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_assertion description "[Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_provenance.
- NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_assertion evidence source_evidence_literature NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_provenance.
- NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_assertion SIO_000772 22549935 NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_provenance.
- NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_assertion wasDerivedFrom befree-2016 NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_provenance.
- NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_assertion wasGeneratedBy ECO_0000203 NP978936.RAHZCekLpXjze3nrRpPp96N2xRpdoa8YELPFMXjWSOAHA130_provenance.