Varaico: Literature-Extracted Genetic Variants

Gene:SYNM
Variant:p.E245D
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SYNM

NM_145728.3:p.E245D

Associated Papers

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 2018

Desminopathies: pathology and mechanisms.

Clemen CS et al.

Acta Neuropathologica, 2013

Desminopathies in muscle disease.

Paulin D et al.

The Journal of Pathology, 2004

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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."