Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.D487_K490delFs
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CYP17A1

NM_000102.4:p.D487_K490delFs

Associated Papers

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

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

Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report.

Tian Y et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2023

New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.

Zhang M et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2015

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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."