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- source_evidence_literature type ECO_0000212 NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_provenance.
- NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_assertion description "[Correct diagnosis of 21-hydroxylase deficiency (21OHD) requires the identification of CYP21A2 gene deletions and CYP21A1P/CYP21A2 chimeric genes, which are disease-causing alleles, and gene duplications, which can lead to false-positive 21OHD allele results.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_provenance.
- NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_assertion evidence source_evidence_literature NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_provenance.
- NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_assertion SIO_000772 17634211 NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_provenance.
- NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_assertion wasDerivedFrom befree-2016 NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_provenance.
- NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_assertion wasGeneratedBy ECO_0000203 NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_provenance.
- befree-2016 importedOn "2016-02-19" NP620231.RAO72Nrm5h8mDa-q9-OgAJEYuNrhR5k3_I56YIxn1MbEg130_provenance.