Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.G296S
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TBX5

NM_181486.4:p.G296S

Associated Papers

LncRNA HSCHARME is altered in human cardiomyopathies and promotes stem cell-derived cardiomyogenesis via splicing regulation.

Buonaiuto G et al.

Nature Communications, 2025

40849301 (PubMed )
Supplement: 41467_2025_62754_MOESM11_ESM.pdf

From Genome-wide Association Studies to Functional Variants: ARL14 Cis-regulatory Variants Are Associated With Severe Malaria.

Adjemout M et al.

The Journal of Infectious Diseases, 2024

38531688 (PubMed )
Supplement: jiae159_supplementary_data.xlsx › Supplementary_Table_3

Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

My I et al.

Journal of Clinical Medicine, 2021

Genetic and Epigenetic Control of Heart Development.

Akerberg BN et al.

Cold Spring Harbor Perspectives in Biology, 2020

Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.

Ang YS et al.

Cell, 2016

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ et al.

American Journal of Medical Genetics. Part A, 2009

Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development.

Maitra M et al.

Developmental Biology, 2009

The effect of human GATA4 gene mutations on the activity of target gonadal promoters.

Bouchard MF et al.

Journal of Molecular Endocrinology, 2009

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.

Nemer G et al.

Human Mutation, 2006

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.

Okubo A et al.

Journal of Medical 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."