Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.S2457delFs
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FLNC

NM_001458.5:p.S2457delFs

Associated Papers

Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.

Ohiri JC et al.

Journal of the American Heart Association, 2024

Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.

Carruth ED et al.

Circulation. Genomic and Precision Medicine, 2022

Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum?

Venegas C et al.

Clinical Medicine (london, England), 2020

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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."