Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.R161W
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SQSTM1

NM_003900.5:p.R161W

Associated Papers

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

Wang S et al.

Journal of Medical Genetics, 2024

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

The clinical spectrum of multisystem proteinopathy: Data from a neurodegenerative cohort.

Vacchiano V et al.

Journal of the Neurological Sciences, 2021

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Uncertain_Significance
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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."