Post by Stefan Barakat

New international collaborative work on VPS16: Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants #raredisease #genetics #dystonia Aida Bertoli Avella, Leslie Sanderson, Anita Nikoncuk, Peter Bauer, Ana Westenberger, Belén Pérez Dueñas, CENTOGENE, Erasmus MC (paper number 24 in 2025 from our group, with some further highlights yet to come :) ) https://lnkd.in/efW9gcbA