Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.A1588G
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FLNC

NM_001458.5:p.A1588G

Associated Papers

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Jaouadi H et al.

Frontiers in Medicine, 2024

39554508 (PubMed )
Supplement: Table_2.XLSX › FLNC

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.

Oktay V et al.

Anatolian Journal of Cardiology, 2023

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

Verdonschot JAJ et al.

Human Mutation, 2020

32112656 (PubMed )
Supplement: HUMU-41-1091-s001.pdf

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.

Janssens J et al.

Acta Neuropathologica Communications, 2015

26555887 (PubMed )
Supplement: 40478_2015_246_MOESM1_ESM.doc
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