Varaico: Literature-Extracted Genetic Variants

Gene:CYP11A1
Variant:p.L288*
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CYP11A1

NM_000781.3:p.L288*

Associated Papers

A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia.

Alhamoudi KM et al.

Heliyon, 2024

P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.

Hauffa B et al.

Endocrine Development, 2011

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

Kim CJ et al.

The Journal of Clinical Endocrinology and Metabolism, 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."