Bandi et al, HGG Advances 2024
收藏NIAID Data Ecosystem2026-05-02 收录
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https://data.mendeley.com/datasets/8x42f6zh2s
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资源简介：
Tonne-Kalscheuer syndrome is a neurodevelopmental disorders associated with variants in the RLIM gene. In this project, we developed RLIM specific flow cytometry reporters to measure the impact of genetic variation on RLIM activity. Additionally, we identified a novel variant and used this assay to assess its pathogenicity.
创建时间：
2024-09-16
