Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.I270S
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TBX4

NM_001321120.2:p.I270S

Associated Papers

Molecular Function and Contribution of TBX4 in Development and Disease.

Karolak JA et al.

American Journal of Respiratory and Critical Care Medicine, 2023

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.

Prapa M et al.

American Journal of Respiratory and Critical Care Medicine, 2022

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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."