Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.R991*
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FLNC

NM_001458.5:p.R991*

Associated Papers

Similar burden of rare genetic variants in ischemic and non-ischemic dilated cardiomyopathy.

Cao L et al.

Frontiers in Cardiovascular Medicine, 2025

A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.

Bueno Marinas M et al.

International Journal of Molecular Sciences, 2024

A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene.

Alsubhi A et al.

Molecular Genetics and Metabolism Reports, 2024

Pathogenic truncating filamin C mutations presenting as acute myocarditis: a case series with insights from cardiac magnetic resonance and histological analysis.

Vrettos A et al.

European Heart Journal. Case Reports, 2024

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.

Patel AP et al.

Jama Cardiology, 2022

Filamin C in cardiomyopathy: from physiological roles to DNA variants.

Song S et al.

Heart Failure Reviews, 2022

Whole-exome sequencing reveals genetic risks of early-onset sporadic dilated cardiomyopathy in the Chinese Han population.

Xiao L et al.

Science China. Life Sciences, 2022

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Akhtar MM et al.

Jama Cardiology, 2021

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy.

Eden M et al.

Journal of Clinical Medicine, 2021

Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.

Sun Y et al.

Frontiers in Cardiovascular Medicine, 2021

37273834 (PubMed )
Supplement: Data_Sheet_2.xlsx › Sheet1

State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.

Patel V et al.

International Journal of Molecular Sciences, 2020

A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Verdonschot JAJ et al.

Human Mutation, 2020

Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.

Hall CL et al.

International Journal of Cardiology, 2020

Structure and Function of Filamin C in the Muscle Z-Disc.

Mao Z et al.

International Journal of Molecular Sciences, 2020

Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.

Xiao F et al.

Translational Pediatrics, 2020

[Genotype-phenotype correlations of pathogenic variants in the FLNC gene].

Ader F et al.

Medecine Sciences : M/s, 2018

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Reinstein E et al.

European Journal of Human Genetics : Ejhg, 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."