Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.P108T
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TBX5

NM_181486.4:p.P108T

Associated Papers

Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.

Bolunduț AC et al.

Children (basel, Switzerland), 2023

Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach.

Mahfuz AMUB et al.

Biochemistry and Biophysics Reports, 2021

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

Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.

Yoshida A et al.

Journal of Human Genetics, 2016

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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."