Varaico: Literature-Extracted Genetic Variants

Gene:CYP11A1
Variant:p.Q416*
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CYP11A1

NM_000781.3:p.Q416*

Associated Papers

Case report: 17α- hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients.

Li J et al.

Frontiers in Pediatrics, 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."