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  1. 5101

    Número Completo by Reinier Michel Viera Reinoso

    Published 2024-12-01
    “…Angie Lisbeth Cáliz Rúales, Carmen Marina Méndez Cabrita, María Fernanda Gómez Ayala, Jessica Johana Santander Moreno. ...............................................................................................................................................................................................................................141 20_Estafas informáticas en una comunidad agrícola del interior de Ecuador. …”
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  11. 5111

    A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy by Abdelbaset Mohamed Elasbali, Farah Anjum, Osama A. AlKhamees, Waleed Abu Al-Soud, Mohd Adnan, Anas Shamsi, Md. Imtaiyaz Hassan

    Published 2025-02-01
    “…Pathogenic potential was assessed using disease phenotype predictors and CADD scores, while allele frequency data from gnomAD contextualized mutation prevalence. Additionally, aggregation propensity, frustration analysis, and post-translational modification sites were analyzed for functional disruptions.ResultsOf the 184 substitutions analyzed, 50 were identified as deleterious, with 41 predicted to be pathogenic. …”
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