Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.R392*
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NEXN

NM_144573.4:p.R392*

Associated Papers

Transposition of the Great Arteries With Intact Ventricular Septum and Fetal-Onset Dilated Cardiomyopathy in a Neonate With a Homozygous NEXN Variant.

Geer D et al.

Case Reports in Pediatrics, 2025

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

Rahimzadeh M et al.

Heart Failure Reviews, 2024

Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.

Picciolli I et al.

Italian Journal of Pediatrics, 2024

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

Hermida A et al.

Circulation. Genomic and Precision Medicine, 2024

Morphological and genetic causes of fetal cardiomyopathies.

Kohaut E et al.

Clinical Genetics, 2023

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

Noureddine M et al.

Frontiers in Physiology, 2023

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

van der Meulen MH et al.

Circulation. Genomic and Precision Medicine, 2022

36178741 (PubMed )
Supplement: hcg-15-e002981-s001.pdf

Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy.

Boen HM et al.

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2022

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

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S7

Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.

Verdonschot JAJ et al.

Circulation. Heart Failure, 2018

30571196 (PubMed )
Supplement: circhf_circhf-2018-005220_supp1.pdf

FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.

Begay RL et al.

Jacc. Basic to Translational Science, 2016

28008423 (PubMed )
Supplement: mmc1.pdf

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

Aherrahrou Z et al.

Basic Research in Cardiology, 2016

Atlas of the clinical genetics of human dilated cardiomyopathy.

Haas J et al.

European Heart Journal, 2015

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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."