Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.Y1216N
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FLNC

NM_001458.5:p.Y1216N

Associated Papers

Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.

Sellung D et al.

Cells, 2023

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

Song S et al.

Heart Failure Reviews, 2022

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

Structure and Function of Filamin C in the Muscle Z-Disc.

Mao Z et al.

International Journal of Molecular Sciences, 2020

Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy.

Roldán-Sevilla A et al.

Circulation. Genomic and Precision Medicine, 2019

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.

Schubert J et al.

Human Mutation, 2018

[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

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

Gómez J et al.

Circulation. Cardiovascular Genetics, 2017

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Avila-Smirnow D et al.

Revue Neurologique, 2016

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.

Valdés-Mas R et al.

Nature Communications, 2014

Filamin C-related myopathies: pathology and mechanisms.

Fürst DO et al.

Acta Neuropathologica, 2013

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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."