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- source_evidence_literature type ECO_0000212 NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_provenance.
- NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_assertion description "[Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_provenance.
- NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_assertion evidence source_evidence_literature NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_provenance.
- NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_assertion SIO_000772 10821226 NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_provenance.
- NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_assertion wasDerivedFrom befree-20140225 NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_provenance.
- NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_assertion wasGeneratedBy ECO_0000203 NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP248678.RA4MtVk1J7bJLt4mBp-2SJrR8Dfp-Jug9tGGWSc5CZTsQ130_provenance.