Varaico: Literature-Extracted Genetic Variants

Gene:VPS16
Variant:p.T148_G149delFs
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VPS16

NM_022575.4:p.T148_G149delFs

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

A Novel Pattern of Dystonia in DYT-VPS16: "Speaking in Tongues".

Desjardins C et al.

Neurology. Genetics, 2024

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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."