Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.R2133C
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FLNC

NM_001458.5:p.R2133C

Associated Papers

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.

Janin A et al.

Molecular Diagnosis & Therapy, 2022

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

Song S et al.

Heart Failure Reviews, 2022

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.

Janin A et al.

Molecular Diagnosis & Therapy, 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

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

Verdonschot JAJ et al.

Human Mutation, 2020

Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy.

Cui H et al.

Molecular Genetics & Genomic Medicine, 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."