Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.R449C
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CYP17A1

NM_000102.4:p.R449C

Associated Papers

Bilateral breast nodules as an unusual manifestation of 17α-hydroxylase/17,20-lyase deficiency.

Zhang M et al.

Frontiers in Endocrinology, 2025

Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.

Zhang D et al.

Frontiers in Endocrinology, 2022

Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.

Wang M et al.

Clinical Hypertension, 2019

A challenging case of primary amenorrhoea.

Sarathi V et al.

Bmj Case Reports, 2018

Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.

Carvalho LC et al.

Fertility and Sterility, 2016

Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.

Marsh CA et al.

Fertility and Sterility, 2014

CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.

Yao F et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013

Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.

Tian Q et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012

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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."