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SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation per Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen
Publicat 2023-06-01
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