Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.V273insFs
Back to variants list

FHL1

NM_001159699.2:p.V273insFs

Associated Papers

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

Malfatti E et al.

Journal of Neuropathology and Experimental Neurology, 2013

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.

Cowling BS et al.

Neuromuscular Disorders : Nmd, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."