Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.R340*
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TBX4

NM_001321120.2:p.R340*

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

Trio RNA sequencing in a cohort of medically complex children.

Deshwar AR et al.

American Journal of Human Genetics, 2023

36990084 (PubMed )
Supplement: mmc1.pdf

Molecular Function and Contribution of TBX4 in Development and Disease.

Karolak JA et al.

American Journal of Respiratory and Critical Care Medicine, 2023

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.

Cruz-Utrilla A et al.

International Journal of Molecular Sciences, 2022

36142358 (PubMed )
Supplement: ijms-23-10433-s001.zip › Table_S1.pdf

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

Castaño JAT et al.

Genes, 2020

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

Hernandez-Gonzalez I et al.

Plos One, 2020

Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.

Galambos C et al.

The European Respiratory Journal, 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."