Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.G1546S
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FLNC

NM_001458.5:p.G1546S

Associated Papers

Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) variants has restrictive and extracardiac features and a distinctive ECG.

de Villiers C et al.

Heart Rhythm, 2026

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

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

Song S et al.

Heart Failure Reviews, 2022

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

Verdonschot JAJ et al.

Human Mutation, 2020

Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Schütte M et al.

Nature Communications, 2017

28186126 (PubMed )
Supplement: ncomms14262-s8.xlsx › all_discordant_SNVs_Indels

[Hypertrophic cardiomyopathy with mid-ventricular phenotype and filamin C mutation, an uncommon case report].

Orozco Burbano JD et al.

Archivos Peruanos De Cardiologia Y Cirugia Cardiovascular, 0

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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."