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- source_evidence_literature type ECO_0000212 NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_provenance.
- NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_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." NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_provenance.
- NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_assertion evidence source_evidence_literature NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_provenance.
- NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_assertion SIO_000772 22549935 NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_provenance.
- NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_assertion wasDerivedFrom befree-20150227 NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_provenance.
- NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_assertion wasGeneratedBy ECO_0000203 NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP413642.RARo0bV1esgQpV3NvseB03GS0RRCcUhiAqeTAIPUBgjaA130_provenance.