Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.G350D
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TBX1

NM_080647.1:p.G350D

Associated Papers

Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.

Zodanu GKE et al.

Frontiers in Genetics, 2021

TBX1 loss-of-function mutation contributes to congenital conotruncal defects.

Zhang M et al.

Experimental and Therapeutic Medicine, 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."