Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.A199Splc
Back to variants list

CYP11B2

NM_000498.3:p.A199Splc

Associated Papers

Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis.

Concolino P

Molecular Diagnosis & Therapy, 2024

Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient.

Li J et al.

Frontiers in Endocrinology, 2023

38027139 (PubMed )
Supplement: DataSheet_1.docx
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."