Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.S288*
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CYP17A1

NM_000102.4:p.S288*

Associated Papers

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

Wang M et al.

Clinical Hypertension, 2019

New genetic abnormalities in non-21α-hydroxylase-deficiency congenital adrenal hyperplasia.

Martin M et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013

Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation.

Escamilla-Márquez MA et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012

The molecular-genetic basis of functional hyperandrogenism and the polycystic ovary syndrome.

Escobar-Morreale HF et al.

Endocrine Reviews, 2005

P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation.

Pérez EG et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0

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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."