Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.R393Q
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SQSTM1

NM_003900.5:p.R393Q

Associated Papers

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

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.

Tripolszki K et al.

Frontiers in Genetics, 2019

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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."