Varaico: Literature-Extracted Genetic Variants

Gene:NUS1
Variant:p.S231Splc
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NUS1

NM_138459.5:p.S231Splc

Associated Papers

NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.

Shen NX et al.

Molecular Neurobiology, 2024

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

Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy.

Hu Y et al.

Frontiers in Genetics, 2023

Psychosis in NUS1 de novo mutation: New phenotypical presentation.

Fraiman P et al.

Clinical Genetics, 2021

Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant.

Zhang P et al.

Frontiers in Pediatrics, 2021

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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."