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- source_evidence_literature type ECO_0000212 NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_provenance.
- NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_assertion description "[Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antim�llerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_provenance.
- NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_assertion evidence source_evidence_literature NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_provenance.
- NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_assertion SIO_000772 9329414 NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_provenance.
- NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_assertion wasDerivedFrom befree-20150227 NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_provenance.
- NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_assertion wasGeneratedBy ECO_0000203 NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP251159.RA8S0BF0Ny8sSPb5DIEipQLBjAiVDF5kiIHqrTwegp2fs130_provenance.