Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.I237M
Back to variants list

CYP21A2

NM_000500.9:p.I237M

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

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

High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.

Claps A et al.

Scientific Reports, 2025

40640193 (PubMed )
Supplement: 41598_2025_3799_MOESM1_ESM.docx

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

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."