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December 23, 2021
Expanding the phenotype of the truncating eIF2 pathogenic variant p.(Ile465Serfs*4)...
Sofia Ygberg and Anna Lindstrand
October 07, 2021
PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed...
Chiara Rasi, Daniel Nilsson, Måns Magnusson, et al.