Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.L2I
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DMD

NM_004006.3:p.L2I

Associated Papers

RNA-targeted splice-correction therapy for neuromuscular disease.

Wood MJ et al.

Brain : a Journal of Neurology, 2010

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Flanigan KM et al.

Human Mutation, 2009

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

Tuffery-Giraud S et al.

European Journal of Human Genetics : Ejhg, 2005

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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."