Bandi et al, HGG Advances 2024

Published: 16 September 2024| Version 1 | DOI: 10.17632/8x42f6zh2s.1
Contributor:
Francisco Bustos

Description

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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Steps to reproduce

Please refer to Bandi et al, HGG Advances, 2024

Institutions

Sanford Research

Categories

Biochemistry, Clinical Genetics, Bioinformatics, Flow Cytometry

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