Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.G28Splc
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EMD

NM_000117.3:p.G28Splc

Associated Papers

Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.

Pinto MJ et al.

Journal of Neuromuscular Diseases, 2022

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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."