Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.K192T
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NKX2-5

NM_004387.4:p.K192T

Associated Papers

An update on genetic variants of the NKX2-5.

Kolomenski JE et al.

Human Mutation, 2020

A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.

Kalayinia S et al.

Journal of Cardiovascular and Thoracic Research, 2019

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.

Chung IM et al.

Genes, 2016

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI_

Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.

Inga A et al.

Human Molecular Genetics, 2005

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

Reamon-Buettner SM et al.

Journal of Medical Genetics, 2004

Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.

Reamon-Buettner SM et al.

The American Journal of Pathology, 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."