Varaico: Literature-Extracted Genetic Variants

Gene:NUS1
Variant:p.M1I
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NUS1

NM_138459.5:p.M1I

Associated Papers

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

Brooker SM et al.

Annals of Neurology, 2025

DHDDS and NUS1: A Converging Pathway and Common Phenotype.

Williams LJ et al.

Movement Disorders Clinical Practice, 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."