Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.L361P
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CYP17A1

NM_000102.4:p.L361P

Associated Papers

17α-hydroxylase deficiency with a novel CYP17A1 mutation: a case report.

Li JB et al.

Translational Pediatrics, 2025

Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17α-hydroxylase/17,20-lyase deficiency.

He R et al.

Steroids, 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."