Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.T388insFs
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TBX4

NM_001321120.2:p.T388insFs

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

Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience.

Ishizuka M et al.

Frontiers in Pediatrics, 2023

Correspondence regarding "T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease": a single-centre case series.

Jansen SMA et al.

The European Respiratory Journal, 2020

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

Kerstjens-Frederikse WS et al.

Journal of Medical Genetics, 2013

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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."