Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Y231*
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DMD

NM_004006.3:p.Y231*

Associated Papers

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.

Barbarii T et al.

Genes, 2025

41595432 (PubMed )
Supplement: genes-17-00012-s001.zip › Supplementary_Table_S1_-_Genotype_and_phenotype_data.xlsx › Foaie1

Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain.

Armijo J et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2025

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

Vieitez I et al.

Neurologia (barcelona, Spain), 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."