Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.C153R
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FHL1

NM_001449.5:p.C153R

Associated Papers

Clinical and genetic analysis of a family with myopathy caused by an FHL1 gene variant.

Zhang S et al.

Bmj Neurology Open, 2025

Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

San Román I et al.

Clinical Genetics, 2016

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

Friedrich FW et al.

Human Molecular Genetics, 2012

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J et al.

The Journal of Clinical Investigation, 2008

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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."