SMuRF-LARGE1
收藏NIAID Data Ecosystem2026-05-01 收录
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资源简介：
We developed a democratized workflow called Saturation Mutagenesis-Reinforced Functional assays (SMuRF) to inspect the direct impact variants have on enzymatic activity. We employed SMuRF to score all possible coding single nucleotide variants (SNVs) of Dystroglycanopathies-related enzyme-coding genes, FKRP and LARGE1. Notes: Sorting for LARGE1
创建时间：
2023-07-01
