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- source_evidence_literature type ECO_0000212 NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_provenance.
- NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_assertion description "[Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_provenance.
- NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_assertion evidence source_evidence_literature NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_provenance.
- NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_assertion SIO_000772 10852465 NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_provenance.
- NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_assertion wasDerivedFrom befree-2016 NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_provenance.
- NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_assertion wasGeneratedBy ECO_0000203 NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP286446.RAMAstwc2jJxE6uB6GkB77fDmdJ-SWSspiCNfX3Tsnr9Q130_provenance.