Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.R279R
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TBX5

NM_181486.4:p.R279R

Associated Papers

Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series.

Borkar Y et al.

Journal of Clinical and Diagnostic Research : Jcdr, 2017

TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.

Reamon-Buettner SM et al.

Human Mutation, 2004

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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."