Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.Y309D
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TBX20

NM_001077653.2:p.Y309D

Associated Papers

TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.

Huang RT et al.

International Journal of Medical Sciences, 2017

Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect.

Monroy-Muñoz IE et al.

Biomed Research International, 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."