Varaico: Literature-Extracted Genetic Variants

Gene:VPS16
Variant:p.R505*
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VPS16

NM_022575.4:p.R505*

Associated Papers

Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.

Gomathy SB et al.

Movement Disorders Clinical Practice, 2025

Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association.

Inalkac Gemici Y et al.

Rheumatology Advances in 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
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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."