Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.S373N
Back to variants list

CYP21A2

NM_000500.9:p.S373N

Associated Papers

Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.

Dubey S et al.

Indian Journal of Pediatrics, 2026

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.

Yoon JH et al.

Annals of Pediatric Endocrinology & Metabolism, 2024

Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.

Concolino P et al.

Molecular Diagnosis & Therapy, 2021

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.

Gangodkar P et al.

Endocrine, 2021

Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.

Ravichandran L et al.

Indian Journal of Endocrinology and Metabolism, 0

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."