Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.A92A
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TBX4

NM_001321120.2:p.A92A

Associated Papers

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Moresco G et al.

Genes & Genomics, 2025

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

Bianco AM et al.

Genes, 2022

36360195 (PubMed )
Supplement: genes-13-01958-s001.zip › genes-1942838-supplementary.pdf

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

Mutations in the human TBX4 gene cause small patella syndrome.

Bongers EM et al.

American Journal of Human Genetics, 2004

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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."