Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.P372fs
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TBX4

NM_001321120.2:p.P372fs

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

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.

Yıldız Bölükbaşı E et al.

American Journal of Medical Genetics. Part A, 2022

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

van den Heuvel LM et al.

Genes, 2020

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

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

Thoré P et al.

The European Respiratory Journal, 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."