Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.V2290fs
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FLNC

NM_001458.5:p.V2290fs

Associated Papers

Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant.

Schoonvelde SAC et al.

Heart Rhythm, 2023

From founder to function: Can we unravel phenotype from genotype?

Weldy CS et al.

Heart Rhythm, 2023

Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.

Stroeks SLVM et al.

European Journal of Human Genetics : Ejhg, 2023

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

Song S et al.

Heart Failure Reviews, 2022

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

Verdonschot JAJ et al.

Human Mutation, 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."