Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E5delFs
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DMD

NM_004006.3:p.E5delFs

Associated Papers

Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.

De Palma FDE et al.

Diagnostics (basel, Switzerland), 2021

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Gurvich OL et al.

Human Mutation, 2009

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.

Buzin CH et al.

Human Mutation, 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."