Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.R2318W
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FLNC

NM_001458.5:p.R2318W

Associated Papers

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

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

Xiao F et al.

Translational Pediatrics, 2020

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.

Ader F et al.

Clinical Genetics, 2019

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

Ader F et al.

Medecine Sciences : M/s, 2018

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J et al.

Circulation. Cardiovascular Genetics, 2017

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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."