Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.T97A
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PITX2

NM_000325.6:p.T97A

Associated Papers

In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.

Vetriselvan Y et al.

Biochemical Genetics, 2025

A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation.

Wang J et al.

European Journal of Medical Genetics, 2014

Prevalence and spectrum of PITX2c mutations associated with congenital heart disease.

Wang J et al.

Dna and Cell Biology, 2013

A novel PITX2c loss‑of‑function mutation underlies lone atrial fibrillation.

Zhou YM et al.

International Journal of Molecular Medicine, 2013

Akt2-mediated phosphorylation of Pitx2 controls Ccnd1 mRNA decay during muscle cell differentiation.

Gherzi R et al.

Cell Death and Differentiation, 2010

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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."