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- source_evidence_literature type ECO_0000212 NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_provenance.
- NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_assertion wasGeneratedBy ECO_0000203 NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_provenance.
- NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_assertion wasDerivedFrom befree-20140225 NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_provenance.
- NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_assertion SIO_000772 23330251 NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_provenance.
- NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_assertion evidence source_evidence_literature NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_provenance.
- NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_assertion description "[Now genetic and phenotypic variations have been elucidated in pregnenolone synthesis defects; mutations in the CYP11A1 gene encoding cholesterol side-chain cleavage enzyme (SCC) also cause disordered pregnenolone synthesis, and STAR mutations do not necessarily results in typical CLAH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP920315.RAOb0Q5194-ichrssuFqzK0_kW5tf_OghzP1WCK5nfrkQ130_provenance.