Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.R340H
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CYP17A1

NM_000102.4:p.R340H

Associated Papers

A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.

Chen H et al.

Blood Pressure, 2023

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency.

Xia Y et al.

Steroids, 2021

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.

Pignatelli D et al.

Frontiers in Endocrinology, 2019

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