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- source_evidence_literature type ECO_0000212 NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_provenance.
- NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_assertion description "[DAX1 mutations were found in 58% (37 of 64) of 46,XY phenotypic boys referred with adrenal hypoplasia and in all boys (eight of eight) with hypogonadotropic hypogonadism and a family history suggestive of adrenal failure in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_provenance.
- NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_assertion evidence source_evidence_literature NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_provenance.
- NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_assertion SIO_000772 16684822 NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_provenance.
- NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_assertion wasDerivedFrom befree-2016 NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_provenance.
- NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_assertion wasGeneratedBy ECO_0000203 NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_provenance.
- befree-2016 importedOn "2016-02-19" NP548847.RAZePpwQG5Dbt-4uEiKm8P8cwxQ59BX08K-JO20Wb0oj4130_provenance.