Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.W77R
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TBX4

NM_001321120.2:p.W77R

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

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Szafranski P et al.

American Journal of Medical Genetics. Part A, 2016

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."