Associated Papers
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K et al.
Biorxiv : the Preprint Server for Biology, 2024
37873263 (PubMed )
Supplement: media-4.xlsx › Restructured_data
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients.
Macias A et al.
Frontiers in Neuroscience, 2021
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
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