2026-10-14T05:55:33Z https://data.mendeley.com/oai

oai:data.mendeley.com/8x42f6zh2s.1 2024-09-16T18:22:43Z

Bustos, Francisco Bandi et al, HGG Advances 2024 Mendeley Data 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. Biochemistry Clinical Genetics Bioinformatics Flow Cytometry Dataset doi:10.17632/8x42f6zh2s.1 oai:data.mendeley.com/8x42f6zh2s.1 Creative Commons Attribution 4.0 International http://creativecommons.org/licenses/by/4.0 https://data.mendeley.com/datasets/8x42f6zh2s 2024-09-16T18:22:43Z