Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.E415Splc
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CYP17A1

NM_000102.4:p.E415Splc

Associated Papers

A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.

Guo X et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021

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

Wang M et al.

Clinical Hypertension, 2019

Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2.

Loukola A et al.

European Journal of Human Genetics : Ejhg, 2004

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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."