Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.R312Fs
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SQSTM1

NM_003900.5:p.R312Fs

Associated Papers

Novel SQSTM1 (c.838G>T) Mutation Identified in Two Unrelated Cases of Cerebellar Ataxia and Gaze Palsy.

Hosseini Moshkenani N et al.

Advanced Biomedical Research, 2025

Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome with Nocturnal Paroxysmal Head Tremor.

Salari M et al.

Movement Disorders Clinical Practice, 2023

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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."