Varaico: Literature-Extracted Genetic Variants

Gene:CYP11A1
Variant:p.H388Q
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CYP11A1

NM_000781.3:p.H388Q

Associated Papers

Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.

Musa SA et al.

European Journal of Endocrinology, 2025

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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."