Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.E247fs
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CYP21A2

NM_000500.9:p.E247fs

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.

Yang Y et al.

Orphanet Journal of Rare Diseases, 2025

41272832 (PubMed )
Supplement: 13023_2025_4116_MOESM2_ESM.xlsx › Sheet1

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-Hydroxylase Deficiency in 457 Individuals.

Lao Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

Simonetti L et al.

Human Mutation, 2018

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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."