Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.T2419M
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FLNC

NM_001458.5:p.T2419M

Associated Papers

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

Sellung D et al.

Cells, 2023

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

Wadmore K et al.

International Journal of Molecular Sciences, 2021

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

Verdonschot JAJ et al.

Human Mutation, 2020

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

Mao Z et al.

International Journal of Molecular Sciences, 2020

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

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

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Tasca G et al.

Muscle & Nerve, 2012

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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."