Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.P31S
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CYP21A2

NM_000500.9:p.P31S

Associated Papers

The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.

Zhao Z et al.

Frontiers in Endocrinology, 2022

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.

Parajes S et al.

Plos One, 2008

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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."