Using Saturation Mutagenesis-Reinforced Functional Assays (SMuRF) to improve the variant interpretation for alpha-dystroglycan glycosylation enzymes https://www.biorxiv.org/content/10.1101/2023.07.12.548370v1?med=mas
Using Saturation Mutagenesis-Reinforced Functional Assays (SMuRF) to improve the variant interpretation for alpha-dystroglycan glycosylation enzymes https://www.biorxiv.org/content/10.1101/2023.07.12.548370v1?med=mas