Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.L330R
Back to variants list

CYP11B1

NM_000497.4:p.L330R

Associated Papers

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

Janot C et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

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."