Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.A341Splc
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TBX4

NM_001321120.2:p.A341Splc

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

Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man.

Shrivastava S et al.

Jacc. Case Reports, 2021

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

Castaño JAT et al.

Genes, 2020

33007923 (PubMed )
Supplement: genes-11-01158-s001.zip › genes-941403-supplementary.xlsx › Supplementary_Table_1

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.

Hernandez-Gonzalez I et al.

Plos One, 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."