Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.D275N
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FHL1

NM_001159700.2:p.D275N

Associated Papers

A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.

Pourebrahim K et al.

The Journal of Cardiovascular Aging, 2021

Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy.

Refsgaard L et al.

Applied & Translational Genomics, 2012

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.

Friedrich FW et al.

Human Molecular Genetics, 2012

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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."