Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q2940*
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DMD

NM_004006.3:p.Q2940*

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

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.

Zhao L et al.

Orphanet Journal of Rare Diseases, 2024

39182149 (PubMed )
Supplement: 13023_2024_3217_MOESM2_ESM.docx
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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."