Varaico: Literature-Extracted Genetic Variants

Gene:TAB2
Variant:p.R347*
Back to variants list

TAB2

NM_001292034.3:p.R347*

Associated Papers

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Expanding the phenotype of TAB2 variants and literature review.

Woods E et al.

American Journal of Medical Genetics. Part A, 2022

TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.

Hanson J et al.

Clinical Genetics, 2022

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.

Chen J et al.

Bmc Cardiovascular Disorders, 2020

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.

Caulfield TR et al.

Molecular Genetics & Genomic Medicine, 2018

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."