Experiment Overview
| Repository ID: | FR-FCM-Z6LL | Experiment name: | SMuRF-LARGE1 | MIFlowCyt score: | 17.25% |
| Primary researcher: | Kaiyue Ma | PI/manager: | Monkol Lek | Uploaded by: | Kaiyue Ma |
| Experiment dates: | 2022-08-02 - | Dataset uploaded: | Jul 2023 | Last updated: | Jul 2023 |
| Keywords: | None | Manuscripts: | |||
| Organizations: |
Yale University, Genetics, New Haven, (US)
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| Purpose: | 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. | ||||
| Conclusion: | None | ||||
| Comments: | Sorting for LARGE1 | ||||
| Funding: | Not disclosed | ||||
| Quality control: | None | ||||
