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- source_evidence_literature type ECO_0000212 NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_provenance.
- NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_assertion description "[Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_provenance.
- NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_assertion evidence source_evidence_literature NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_provenance.
- NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_assertion SIO_000772 22549935 NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_provenance.
- NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_assertion wasDerivedFrom befree-2016 NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_provenance.
- NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_assertion wasGeneratedBy ECO_0000203 NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_provenance.
- befree-2016 importedOn "2016-02-19" NP978935.RAsopvh3j7BA35UwcxZj7e5DK7gaoP7pquoPb7a0Vx90w130_provenance.