Keep your eyes peeled for VPS16
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference7 articles.
1. Genomics England research consortium, loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early onset dystonia associated with lysosomal abnormalities;Steel;Ann. Neurol.,2020
2. Clinical and pathological characterization of VPS16 dystonia (P11-11.005;Pullman,2023
3. Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia;Cai;Sci. Rep.,2016
4. Mutations in the VPS16 gene in 56 early-onset dystonia patients;Li;Mov. Disord.,2021
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical Genetics and Genomics and the association for molecular pathology;Richards;Genet. Med.,2015
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