Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.R267H
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SQSTM1

NM_003900.5:p.R267H

Associated Papers

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

SQSTM1 Mutations and Glaucoma.

Scheetz TE et al.

Plos One, 2016

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.

Fecto F et al.

Archives of Neurology, 2011

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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."