Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.V1643Splc
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FLNC

NM_001458.5:p.V1643Splc

Associated Papers

Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.

Muravyev A et al.

Orphanet Journal of Rare Diseases, 2022

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Juntas Morales R et al.

Genes, 2021

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

Zenagui R et al.

The Journal of Molecular Diagnostics : Jmd, 2018

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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."