Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.Q2417_E2418Splc
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FLNC

NM_001458.5:p.Q2417_E2418Splc

Associated Papers

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

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

Song S et al.

Heart Failure Reviews, 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

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

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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."