Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.E383fs
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CYP17A1

NM_000102.4:p.E383fs

Associated Papers

Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.

Mo EY et al.

Endocrinology and Metabolism (seoul, Korea), 2018

Genetics of premature ovarian failure.

Bilgin EM et al.

Current Opinion in Obstetrics & Gynecology, 2015

A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency.

Lee ES et al.

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

[A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].

Jiang Y et al.

Zhonghua Yi Xue Za Zhi, 2011

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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."