Varaico: Literature-Extracted Genetic Variants

Gene:NUS1
Variant:p.R202fs
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NUS1

NM_138459.5:p.R202fs

Associated Papers

Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.

Ji C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.

Den K et al.

Bmc Neurology, 2019

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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."