Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.C225R
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FHL1

NM_001159699.2:p.C225R

Associated Papers

Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.

Chumakova OS et al.

Frontiers in Cardiovascular Medicine, 2023

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

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

Hartmannova H et al.

Circulation. Cardiovascular Genetics, 2013

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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."