Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.T129S
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PITX2

NM_000325.6:p.T129S

Associated Papers

Human Genetics of Ventricular Septal Defect.

Perrot A et al.

Advances in Experimental Medicine and Biology, 2024

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

PITX2 loss-of-function mutation contributes to tetralogy of Fallot.

Sun YM et al.

Gene, 2016

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.

Zhao CM et al.

Plos One, 2015

Novel PITX2c loss-of-function mutations associated with complex congenital heart disease.

Wei D et al.

International Journal of Molecular Medicine, 2014

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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."