Varaico: Literature-Extracted Genetic Variants

Gene:TAB2
Variant:p.T467fs
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TAB2

NM_001292034.3:p.T467fs

Associated Papers

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.

Engwerda A et al.

European Journal of Human Genetics : Ejhg, 2021

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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."