Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.Q342*
Back to variants list

CYP11B1

NM_000497.4:p.Q342*

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

Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.

Ravichandran L et al.

European Journal of Medical Genetics, 2021

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."