Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.Q80*
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CYP17A1

NM_000102.4:p.Q80*

Associated Papers

17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.

Siklar Z et al.

Endocrine, 2024

A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.

Beştaş A et al.

Endocrine, 2022

A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.

Unal E et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2020

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.

Kurnaz E et al.

Hormone Research in Paediatrics, 2020

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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."