Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.E323E
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SQSTM1

NM_003900.5:p.E323E

Associated Papers

Novel Biallelic SQSTM1 Mutation Causing a Subacute-Onset Complex Movement Disorder with Oculomotor Abnormalities.

de Almeida Marcelino AL et al.

Movement Disorders Clinical Practice, 2025

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.

Masuko S et al.

Molecular Genetics & Genomic Medicine, 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."