Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.K300T
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GATA4

NM_002052.5:p.K300T

Associated Papers

In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.

Abbasi S et al.

Journal of Cardiovascular and Thoracic Research, 2021

Functional analysis of the congenital heart disease‑associated GATA4 H436Y mutation in vitro.

Fang T et al.

Molecular Medicine Reports, 2019

Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot.

Dixit R et al.

Human Mutation, 2018

Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.

Liu H et al.

Annals of Clinical and Laboratory Science, 2017

A novel mutation of GATA4 (K300T) associated with familial atrial septal defect.

Chen J et al.

Gene, 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."