Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.P372fs
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TBX4

NM_018488.3:p.P372fs

Associated Papers

Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.

Maddaloni C et al.

Italian Journal of Pediatrics, 2024

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

Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease.

Hernandez-Gonzalez I et al.

Cells, 2021

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

Castaño JAT et al.

Genes, 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."