Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.G562V
Back to variants list

TNXB

NM_001365276.2:p.G562V

Associated Papers

Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.

Marino R et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.

Hannah-Shmouni F et al.

Reviews in Endocrine & Metabolic Disorders, 2018

Mutation analysis of the CYP21A2 gene in the Iranian population.

Rabbani B et al.

Genetic Testing and Molecular Biomarkers, 2012

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."