Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.C126Y
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FHL1

NM_001449.5:p.C126Y

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

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

San Román I et al.

Clinical Genetics, 2016

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

Uruha A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2015

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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."