Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.N175_N176delFs
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TBX4

NM_001321120.2:p.N175_N176delFs

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

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

Neonatal Lung Disease Associated with TBX4 Mutations.

Suhrie K et al.

The Journal of Pediatrics, 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA et al.

American Journal of Human Genetics, 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."