Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.P2298L
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FLNC

NM_001458.5:p.P2298L

Associated Papers

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy.

Dong J et al.

Journal of Multidisciplinary Healthcare, 2024

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

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

Song S et al.

Heart Failure Reviews, 2022

Genetic Insights into Primary Restrictive Cardiomyopathy.

Brodehl A et al.

Journal of Clinical Medicine, 2022

Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.

Chintanaphol M et al.

Reviews in Cardiovascular Medicine, 2022

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

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

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

Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics.

Rindler TN et al.

Scientific Reports, 2017

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Brodehl A et al.

Human Mutation, 2016

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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."