Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.I259delFs
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CYP17A1

NM_000102.4:p.I259delFs

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

CYP17A1 Pathogenic Variants in 26 Chinese Patients With 17α-Hydroxylase Deficiency by Targeted Long-Read Sequencing.

Cao Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.

Pan P et al.

Journal of Ovarian Research, 2023

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

Wang M et al.

Clinical Hypertension, 2019

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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."