Validation of top-performing in silico predictors for VUS identified by NGS in lysosomal disorders

Molecular Genetics and Metabolism 2026

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Authors: Isidro Arevalo-Vargas, Irene Serrano Gonzalo, Sonia Roca-Esteve, Carlos Lahoz, Pilar Mozas, Pilar Giraldo

DOI: 10.1016/j.ymgme.2025.109315

Cited by: 0

Fields of Study & Subjects

Genomics and Rare Diseases Lysosomal Storage Disorders Research Metabolism and Genetic Disorders