Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.S2461N
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FLNC

NM_001458.5:p.S2461N

Associated Papers

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

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D et al.

Journal of Neuromuscular Diseases, 2019

31127727 (PubMed )
Supplement: sj-xlsx-3-jnd-10.3233_jnd-180376.xlsx › Blad1

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

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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."