Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.K388*
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CYP17A1

NM_000102.4:p.K388*

Associated Papers

Disorders of Sex Development: Classification, Review, and Impact on Fertility.

Acién P et al.

Journal of Clinical Medicine, 2020

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

Wang M et al.

Clinical Hypertension, 2019

Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients.

Han B et al.

Gene, 2013

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.

Dhir V et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.

Schwab KO et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005

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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."