Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.E305Splc
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SQSTM1

NM_001142298.2:p.E305Splc

Associated Papers

Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.

Wang S et al.

Journal of Medical Genetics, 2024

Dystrophin genetic variants and autism.

Passos-Bueno MR et al.

Discover Mental Health, 2022

Cerebellar Ataxia in Adults with SQSTM1-Associated Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum of Disorders.

Mishra B et al.

Movement Disorders Clinical Practice, 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."