Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in<i>VPS33A</i>

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Authors: Pavlova, Elena V; Lev, Dorit; Michelson, Marina; Yosovich, Keren; Michaeli, Hila Gur; Bright, Nicholas A; Manna, Paul T; Dickson, Veronica Kane; Tylee, Karen L; Church, Heather J; Luzio, J Paul; Cox, Timothy M

Journal title: Human Mutation

Journal publisher: John Wiley & Sons Inc.

Published year: 2022

DOI identifier: 10.1101/2022.08.27.22279208

ISSN: 1059-7794