Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.C276S
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FHL1

NM_001159700.2:p.C276S

Associated Papers

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

San Román I et al.

Clinical Genetics, 2016

Adverse clinical course and poor prognosis of hypertrophic cardiomyopathy due to mutations in FHL1.

Gallego-Delgado M et al.

International Journal of Cardiology, 2015

FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.

Wilding BR et al.

Journal of Cell Science, 2014

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.

Friedrich FW et al.

Human Molecular Genetics, 2012

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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."