Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.I296T
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CYP17A1

NM_000102.4:p.I296T

Associated Papers

Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.

Chai Q et al.

Journal of Assisted Reproduction and Genetics, 2025

A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.

Chen H et al.

Blood Pressure, 2023

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency.

Xia Y et al.

Steroids, 2021

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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."