Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.N175fs
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TBX4

NM_001321120.2:p.N175fs

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

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."