Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.G127_D128ins1
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FHL1

NM_001159699.2:p.G127_D128ins1

Associated Papers

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.

Sarkozy A et al.

European Journal of Human Genetics : Ejhg, 2011

Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.

Shathasivam T et al.

Journal of Cellular and Molecular Medicine, 2010

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Gueneau L et al.

American Journal of Human Genetics, 2009

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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."