Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.R1002W
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FLNC

NM_001458.5:p.R1002W

Associated Papers

An attractive alternative to prenatal diagnosis: a case report of preimplantation genetic testing in familial cardiomyopathy.

Pandey S et al.

Ajog Global Reports, 2025

Translational investigation of electrophysiology in hypertrophic cardiomyopathy.

Flenner F et al.

Journal of Molecular and Cellular Cardiology, 2021

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

Analysis of Contractile Function of Permeabilized Human Hypertrophic Cardiomyopathy Multicellular Heart Tissue.

Kresin N et al.

Frontiers in Physiology, 2019

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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."