Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.E331del1
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CYP17A1

NM_000102.4:p.E331del1

Associated Papers

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

Wang M et al.

Clinical Hypertension, 2019

The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.

Lanzolla G et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2017

A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.

Qiao J et al.

European Journal of Endocrinology, 2011

Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.

Rosa S et al.

Hormone Research in Paediatrics, 2010

P450c17 deficiency: clinical and molecular characterization of six patients.

Rosa S et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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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."