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- source_evidence_literature type ECO_0000212 NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_provenance.
- NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_assertion description "[Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_provenance.
- NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_assertion evidence source_evidence_literature NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_provenance.
- NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_assertion SIO_000772 20080860 NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_provenance.
- NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_assertion wasDerivedFrom befree-2016 NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_provenance.
- NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_assertion wasGeneratedBy ECO_0000203 NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_provenance.
- befree-2016 importedOn "2016-02-19" NP787617.RA-U1cqcl1ZxU-fAjgqg22OgqGZqutQmZHBfWM_9DpJx0130_provenance.