Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.S372S
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CYP21A2

NM_000500.9:p.S372S

Associated Papers

A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase.

Arriba M et al.

Clinical Genetics, 2021

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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."