Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.H236_V238delFs
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CYP21A2

NM_000500.9:p.H236_V238delFs

Associated Papers

Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1.

Koprulu O et al.

Sisli Etfal Hastanesi Tip Bulteni, 2022

High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.

Campos VC et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."