Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.W122S
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FHL1

NM_001449.5:p.W122S

Associated Papers

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.

Mohassel P et al.

Annals of Clinical and Translational Neurology, 2023

Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients.

Lin Y et al.

Journal of Human Genetics, 2023

FHL1-mutated reducing body myopathy.

Lim KY et al.

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

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

San Román I et al.

Clinical Genetics, 2016

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

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.

Cowling BS et al.

The Journal of Cell Biology, 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."