Varaico: Literature-Extracted Genetic Variants

Gene:FBXW11
Variant:p.R279*
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FBXW11

NM_001378974.1:p.R279*

Associated Papers

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

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.

Heinritz W et al.

Heart (british Cardiac Society), 2005

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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."