Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.R261*
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TBX4

NM_001321120.2:p.R261*

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

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

Thoré P et al.

The European Respiratory Journal, 2020

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Jourdain AS et al.

Human Mutation, 2020

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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."