Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.S154A
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TBX5

NM_181486.4:p.S154A

Associated Papers

Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.

Varela D et al.

Molecular Genetics and Genomics : Mgg, 2021

Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.

Patterson J et al.

American Journal of Medical Genetics. Part A, 2020

A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy.

Zhou W et al.

International Journal of Molecular Medicine, 2015

TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy.

Zhang XL et al.

Biochemical and Biophysical Research Communications, 2015

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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."