Varaico: Literature-Extracted Genetic Variants

Gene:TAB2
Variant:p.G70R
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TAB2

NM_001292034.3:p.G70R

Associated Papers

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Morlino S et al.

European Journal of Human Genetics : Ejhg, 2018

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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."