Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.G153A
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FHL1

NM_001159699.2:p.G153A

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

A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles.

Fujii T et al.

Journal of the Neurological Sciences, 2014

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

Malfatti E et al.

Journal of Neuropathology and Experimental Neurology, 2013

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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."