Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.P611T
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NEXN

NM_144573.4:p.P611T

Associated Papers

Nexilin mutations, a cause of chronic heart failure: A state-of-the-art review starting from a clinical case.

Năstasie OC et al.

World Journal of Cardiology, 2025

Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.

Rahimzadeh M et al.

Heart Failure Reviews, 2024

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

Hermida A et al.

Circulation. Genomic and Precision Medicine, 2024

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

Johansson J et al.

American Journal of Medical Genetics. Part A, 2022

Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus.

Peng Y et al.

Frontiers in Cardiovascular Medicine, 2022

Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.

Bruyndonckx L et al.

American Journal of Medical Genetics. Part A, 2021

Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis.

Aherrahrou Z et al.

Basic Research in Cardiology, 2016

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.

Hassel D et al.

Nature Medicine, 2009

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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."