Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.K370Q
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CYP11B1

NM_000497.4:p.K370Q

Associated Papers

Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.

Tang S et al.

Endocrine, 2024

Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.

Fylaktou I et al.

Hormones (athens, Greece), 2022

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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."