Varaico: Literature-Extracted Genetic Variants

Gene:VPS16
Variant:p.R647*
Back to variants list

VPS16

NM_022575.4:p.R647*

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

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia.

Ahmadipour M et al.

Annals of Clinical and Translational Neurology, 2025

40539305 (PubMed )
Supplement: ACN3-12-1660-s001.pdf

Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.

Kaymak A et al.

Annals of Neurology, 2025

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

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

Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.

Park J et al.

Neurology. Genetics, 2022

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."