Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.C153Y
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FHL1

NM_001449.5:p.C153Y

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

FHL1-mutated reducing body myopathy.

Lim KY et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020

FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.

Wilding BR et al.

Journal of Cell Science, 2014

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."