Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.D2703fs
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FLNC

NM_001458.5:p.D2703fs

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

Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.

Gigli M et al.

Circulation, 2021

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

Verdonschot JAJ et al.

Human Mutation, 2020

FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy.

Brun F et al.

Journal of Medical Genetics, 2020

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

Ader F et al.

Medecine Sciences : M/s, 2018

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.

Kiselev A et al.

Human Mutation, 2018

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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."