Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.R4050R
Back to variants list

TNXB

NM_019105.8:p.R4050R

Associated Papers

Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X.

Lao Q et al.

Genes, 2023

Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.

Yamaguchi T et al.

Frontiers in Genetics, 2023

A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

Lao Q et al.

Molecular Genetics & Genomic Medicine, 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."