Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Y3217Splc
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DMD

NM_004006.3:p.Y3217Splc

Associated Papers

Efficient precise in vivo base editing in adult dystrophic mice.

Xu L et al.

Nature Communications, 2021

34140489 (PubMed )
Supplement: 41467_2021_23996_MOESM1_ESM.pdf

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.

Santin R et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2021

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

Daoud F et al.

Human Molecular Genetics, 2009

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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."