Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.I332T
Back to variants list

CYP17A1

NM_000102.4:p.I332T

Associated Papers

Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.

Chai Q et al.

Journal of Assisted Reproduction and Genetics, 2025

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

Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency.

Xu Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.

Maheshwari M et al.

Journal of the Endocrine Society, 2022

Reproductive endocrine characteristics and in vitro fertilization treatment of female patients with partial 17α-hydroxylase deficiency: Two pedigree investigations and a literature review.

Jiang S et al.

Frontiers in Endocrinology, 2022

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

Wang M et al.

Clinical Hypertension, 2019

A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.

Kim YM et al.

Metabolism: Clinical and Experimental, 2014

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."