Bandi et al, HGG Advances 2024
Published: 16 September 2024| Version 1 | DOI: 10.17632/8x42f6zh2s.1
Contributor:
Francisco BustosDescription
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.
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Please refer to Bandi et al, HGG Advances, 2024
Institutions
Sanford Research
Categories
Biochemistry, Clinical Genetics, Bioinformatics, Flow Cytometry