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- source_evidence_literature type ECO_0000212 NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_provenance.
- NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_assertion description "[Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_provenance.
- NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_assertion evidence source_evidence_literature NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_provenance.
- NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_assertion SIO_000772 18350250 NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_provenance.
- NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_assertion wasDerivedFrom befree-20150227 NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_provenance.
- NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_assertion wasGeneratedBy ECO_0000203 NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP712337.RAIMemqdoeMe4LeU25-sWsjGGpDF481uvF247XkoSjNN8130_provenance.