HIGHLIGHTS
- who: SEPT-GD and collaborators from the University of Groningen University of Groningen, University Medical Center Groningen, Department of Genetics, The Netherlands have published the paper: University of Groningen, in the Journal: (JOURNAL) of 20/02/2022
- what: Our data show that SEPT-GD is a reliable tool to prioritise RNA_splicing variants for functional follow-up, as exemplified by the variants identified in cardiomyopathy genes.
- future: Several promising developments will improve and accelerate the evaluation of potential splice-site variants in the near future. Studies using specific tissues is needed for conclusive results . . .
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