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Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
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Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao, Katy E S Barwick, Derek Burke, Diane Demailly, Kishore R Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, …
Annals of neurology, Vol.88(5), pp.867-877
11/2020
PMID: 32808683

Résumé

Adult Cost of Illness Dystonia - genetics Dystonia - pathology Exome - genetics Female Fibroblasts - pathology Genetic Predisposition to Disease - genetics Genetic Variation Humans Lysosomal Storage Diseases - genetics Lysosomal Storage Diseases - pathology Male Middle Aged Mutation - genetics Pedigree Vesicular Transport Proteins - genetics

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