Varaico: Literature-Extracted Genetic Variants

Gene:NUS1
Variant:p.Q289*
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NUS1

NM_138459.5:p.Q289*

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

Myoclonus, dystonia and parkinsonism due to a de novo novel variant in the NUS1 gene: Furthering the epilepsy-dyskinesia spectrum.

Garg D et al.

Parkinsonism & Related Disorders, 2025

Myoclonus, dystonia and parkinsonism due to a de novo novel variant in the NUS1 gene: Furthering the epilepsy-dyskinesia spectrum - Expert commentary.

Riboldi GM et al.

Parkinsonism & Related Disorders, 2025

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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."