Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.A79V
Back to variants list

TBX5

NM_181486.4:p.A79V

Associated Papers

KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.

Darwich R et al.

Human Molecular Genetics, 2017

The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.

Waldron L et al.

Developmental Cell, 2016

Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.

Yamak A et al.

The Journal of Biological Chemistry, 2015

Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins.

Sen A et al.

Molecular Genetics and Genomics : Mgg, 2010

TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.

Reamon-Buettner SM et al.

Human Mutation, 2004

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."