Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.Y329N
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CYP17A1

NM_000102.4:p.Y329N

Associated Papers

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.

Xia J et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2021

[17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child].

Wei HL et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.

Wang YP et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014

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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."