Varaico: Literature-Extracted Genetic Variants

Gene:NUS1
Variant:p.W9*
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NUS1

NM_138459.5:p.W9*

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

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Brooker SM et al.

Annals of Neurology, 2025

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

The natural history of progressive myoclonus ataxia.

van der Veen S et al.

Neurobiology of Disease, 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."