Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.V5M
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CYP17A1

NM_000102.4:p.V5M

Associated Papers

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.

Liang D et al.

Genome Medicine, 2025

41469707 (PubMed )
Supplement: 13073_2025_1594_MOESM1_ESM.pdf

Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.

Zhang R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Identification of polymorphisms in 12q24.1, ACAD10, and BRAP as novel genetic determinants of blood pressure in Japanese by exome-wide association studies.

Yamada Y et al.

Oncotarget, 2017

28562329 (PubMed )
Supplement: oncotarget-08-43068-s002.docx
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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."