Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.W2915*
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DMD

NM_004006.3:p.W2915*

Associated Papers

Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.

Braga VLL et al.

Brain Sciences, 2023

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Alcántara-Ortigoza MA et al.

Genes, 2019

Comprehensive genetic characteristics of dystrophinopathies in China.

Ma P et al.

Orphanet Journal of Rare Diseases, 2018

29973226 (PubMed )
Supplement: 13023_2018_853_MOESM1_ESM.pdf

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.

Lo IF et al.

Chinese Medical Journal, 2006

Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.

Chan SHS et al.

Child Neurology Open, 0

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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."