Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.T1642_V1643insFs
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FLNC

NM_001458.5:p.T1642_V1643insFs

Associated Papers

Postmortem Diagnosis of Dilated Cardiomyopathy: A Systematic Review Revisiting Fundamentals.

Calabrese S et al.

Diagnostics (basel, Switzerland), 2025

Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics.

Galanti K et al.

Esc Heart Failure, 2025

A case series of patients with filamin-C truncating variants attending a specialized cardiac genetic clinic.

Hespe S et al.

European Heart Journal. Case Reports, 2023

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.

Carruth ED et al.

Circulation. Genomic and Precision Medicine, 2022

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.

Cowan JR et al.

Circulation. Genomic and Precision Medicine, 2020

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.

Morales A et al.

Circulation. Genomic and Precision Medicine, 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
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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."