Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.C150R
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FHL1

NM_001159702.3:p.C150R

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

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

Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene.

Sabatelli P et al.

Frontiers in Aging Neuroscience, 2014

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

Selcen D et al.

Neurology, 2011

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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."