Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.V305A
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CYP21A2

NM_000500.9:p.V305A

Associated Papers

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.

Concolino P et al.

Molecular Diagnosis & Therapy, 2018

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.

Bruque CD et al.

Scientific Reports, 2016

27966633 (PubMed )
Supplement: srep39082-s1.pdf
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