Varaico: Literature-Extracted Genetic Variants

Gene:VPS16
Variant:p.R525*
Back to variants list

VPS16

NM_022575.4:p.R525*

Associated Papers

VPS16-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile.

Mahale RR et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.

Wadon ME et al.

Journal of Neurology, 2022

35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1

DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia.

Shashi S et al.

Annals of Indian Academy of Neurology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."