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- source_evidence_literature type ECO_0000212 NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_provenance.
- NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_assertion description "[NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_provenance.
- NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_assertion evidence source_evidence_literature NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_provenance.
- NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_assertion SIO_000772 22549935 NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_provenance.
- NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_assertion wasDerivedFrom befree-2016 NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_provenance.
- NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_assertion wasGeneratedBy ECO_0000203 NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_provenance.
- befree-2016 importedOn "2016-02-19" NP978937.RAADX-ZkEF3Y7102IXwMyBCe4F2Muc_ImZZ2n1EkhniI0130_provenance.