Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.R2326*
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FLNC

NM_001458.5:p.R2326*

Associated Papers

Genetic and Clinical Characterization of FLNC Variants in Chinese Patients with Cardiomyopathy.

Xing G et al.

Journal of Cardiovascular Development and Disease, 2025

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list

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

Song S et al.

Heart Failure Reviews, 2022

Dilated cardiomyopathy due to filamin C mutation: anthracycline treatment as a trigger.

Caballero Valderrama MR et al.

Revista Espanola De Cardiologia (english Ed.), 2022

Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.

Guo L et al.

Jama Cardiology, 2021

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

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

[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

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Janin A et al.

Clinical Genetics, 2017

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

Ortiz-Genga MF et al.

Journal of the American College of Cardiology, 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."