Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.F48insFs
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FHL1

NM_001159699.2:p.F48insFs

Associated Papers

Description of a novel variant in the FHL1 gene associated with hypertrophic cardiomyopathy with early and aggressive presentation.

López Blázquez M et al.

Revista Espanola De Cardiologia (english Ed.), 2022

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

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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."