Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.C129Y
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FHL1

NM_001159702.3:p.C129Y

Associated Papers

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies.

Shimazaki R et al.

Annals of Clinical and Translational Neurology, 2025

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

Luo YB et al.

Frontiers in Neurology, 2020

Corrigendum: Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

Luo YB et al.

Frontiers in Neurology, 2020

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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."