Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.T89_K92del0
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SOD1

NM_000454.5:p.T89_K92del0

Associated Papers

Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.

Berdyński M et al.

Human Mutation, 2025

40551967 (PubMed )
Supplement: 9792233.f1.docx

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
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