Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.A341P
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TBX4

NM_001321120.2:p.A341P

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

Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.

Thoré P et al.

The European Respiratory Journal, 2020

Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.

Eyries M et al.

The European Respiratory Journal, 2019

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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."