Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.P1528R
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FLNC

NM_001458.5:p.P1528R

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

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

de Kovel CG et al.

Molecular Genetics & Genomic Medicine, 2016

27652284 (PubMed )
Supplement: MGG3-4-568-s002.xlsx › variant_overview
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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."