Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.L465Q
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CYP21A2

NM_000500.9:p.L465Q

Associated Papers

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.

Krone N et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

23337727 (PubMed )
Supplement: supp_jc.2012-3343_12-3343Tab1-3Fig1.pdf
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