Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.L103L
Back to variants list

TBX5

NM_181486.4:p.L103L

Associated Papers

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

Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.

Porto MP et al.

Genetics and Molecular Biology, 2010

Novel TBX5 mutations in patients with Holt-Oram syndrome.

Debeer P et al.

Clinical Orthopaedics and Related Research, 2007

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."