Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.R95W
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FHL1

NM_001159702.3:p.R95W

Associated Papers

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

San Román I et al.

Clinical Genetics, 2016

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."