Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.Q315*
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CYP21A2

NM_000500.9:p.Q315*

Associated Papers

A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.

Vu CD et al.

Advances in Experimental Medicine and Biology, 2020

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

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.

Dolzan V et al.

European Journal of Endocrinology, 2005

Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.

Votava F et al.

European Journal of Endocrinology, 2005

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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."