Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.F145S
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NKX2-5

NM_004387.4:p.F145S

Associated Papers

Sudden Death in Pediatric Patient With Dilated Cardiomyopathy Due to Founder Variant in NKX2-5: Case Report.

Scibetta N et al.

Academic Forensic Pathology, 2024

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Yoneda ZT et al.

Jama Cardiology, 2021

34495297 (PubMed )
Supplement: jamacardiol-e213370-s001.pdf

Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.

Dixit R et al.

American Journal of Medical Genetics. Part A, 2021

Transcriptional factors in calcium mishandling and atrial fibrillation development.

Dai W et al.

Pflugers Archiv : European Journal of Physiology, 2021

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

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

A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.

Abdul Samad F et al.

Plos One, 2016

Atrial fibrillation: the role of common and rare genetic variants.

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Candidate gene approach to identifying rare genetic variants associated with lone atrial fibrillation.

Weeke P et al.

Heart Rhythm, 2014

Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation.

Yu H et al.

International Journal of Medical Sciences, 2014

A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation.

Huang RT et al.

International Journal of Molecular Medicine, 2013

Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation.

Ritchie MD et al.

Journal of the American College of Cardiology, 2012

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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."