Varaico: Literature-Extracted Genetic Variants

Gene:NUS1
Variant:p.W33insFs
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NUS1

NM_138459.5:p.W33insFs

Associated Papers

Expanding the Phenotypic Spectrum of NUS1-Related Disorders: A Case of Childhood-Onset Parkinsonism.

Munoz-Chesta D et al.

Movement Disorders Clinical Practice, 2026

Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin.

Sau C et al.

Frontiers in Genetics, 2025

NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?

Riboldi GM et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022

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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."