Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.L94R
Back to variants list

TBX5

NM_181486.4:p.L94R

Associated Papers

The association between preaxial polydactyly and radial longitudinal deficiency in syndromic cases: a report on nine families.

Al-Qattan MM

The Journal of Hand Surgery, European Volume, 2018

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

Waldron L et al.

Developmental Cell, 2016

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.

Al-Qattan MM et al.

Saudi Medical Journal, 2015

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.

Al-Qattan MM et al.

Gene, 2015

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

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

Boogerd CJ et al.

Cardiovascular Research, 2010

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."