Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.A233D
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TBX5

NM_181486.4:p.A233D

Associated Papers

Santos syndrome is caused by mutation in the WNT7A gene.

Alves LU et al.

Journal of Human Genetics, 2017

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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."