[From gene to cell: Functional validation of RYR1 variants].

Abstract excerpt

Genetic screening of rare diseases allows identification of the responsible gene(s) in about 50% of patients. The remaining cases are in a diagnostic deadlock as current knowledge fails to identify the correct gene or determine if the detected variant on the gene is pathogenic. These are named "variants of unknown significance" (VUS). In the case of neuromuscular diseases, the RYR1 gene is often implicated, with...

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