Varaico: Literature-Extracted Genetic Variants

Gene:VPS16
Variant:p.Y463*
Back to variants list

VPS16

NM_022575.4:p.Y463*

Associated Papers

Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study.

Svorenova T et al.

Annals of Neurology, 2025

VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.

Panigrahi B et al.

Movement Disorders Clinical Practice, 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

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

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.

Monfrini E et al.

Movement Disorders Clinical Practice, 2024

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."