Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.D2703delFs
Back to variants list

FLNC

NM_001458.5:p.D2703delFs

Associated Papers

Combination of FLNC and JUP variants causing arrhythmogenic cardiomyopathy in an Iranian family with different clinical features.

Mehdizadeh K et al.

Bmc Cardiovascular Disorders, 2024

A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.

Bueno Marinas M et al.

International Journal of Molecular Sciences, 2024

Cardiac arrest as first presentation of arrhythmogenic left ventricular cardiomyopathy due to Filamin C mutation: a case report.

Kandhari N et al.

European Heart Journal. Case Reports, 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

FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy.

Brun F et al.

Journal of Medical Genetics, 2020

Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy.

Zhang YT et al.

Chinese Medical Journal, 2018

Filamin C-related myopathies: pathology and mechanisms.

Fürst DO et al.

Acta Neuropathologica, 2013

Dominant-negative effects of a novel mutation in the filamin myopathy.

Kono S et al.

Neurology, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."