[HTML][HTML] RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome
V Bandi, M Rennie, I Koch, P Gill, OD Pacheco… - Human Genetics and …, 2025 - cell.com
Summary Tonne-Kalscheuer syndrome (TOKAS; MIM: 300978) is an X-linked recessive
disorder with devastating consequences for patients, such as intellectual disability …
disorder with devastating consequences for patients, such as intellectual disability …