Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.S7F
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DES

NM_001927.4:p.S7F

Associated Papers

Desmin in muscle and associated diseases: beyond the structural function.

Hnia K et al.

Cell and Tissue Research, 2015

Desmin related disease: a matter of cell survival failure.

Capetanaki Y et al.

Current Opinion in Cell Biology, 2015

Desminopathies: pathology and mechanisms.

Clemen CS et al.

Acta Neuropathologica, 2013

Desmin-related myopathy.

van Spaendonck-Zwarts KY et al.

Clinical Genetics, 2011

Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.

Vattemi G et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2011

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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."