Varaico: Literature-Extracted Genetic Variants

Gene:VPS16
Variant:p.R643fs
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VPS16

NM_022575.4:p.R643fs

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

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.

Monfrini E et al.

Brain : a Journal of Neurology, 2021

Mutation screening of VPS16 gene in patients with isolated dystonia.

Li LX et al.

Parkinsonism & Related Disorders, 2021

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

Shashi S et al.

Annals of Indian Academy of Neurology, 0

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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."