Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.D84H
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SOD1

NM_000454.5:p.D84H

Associated Papers

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

American Journal of Human Genetics, 2025

40957416 (PubMed )
Supplement: mmc2.xlsx › Huang2024_ClinicalPhenotypes

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

Biorxiv : the Preprint Server for Biology, 2025

40060668 (PubMed )
Supplement: media-2.xlsx › Huang2024_ClinicalPhenotypes

Mutational and transcriptional profiling of cuproptosis-associated genes in amyotrophic lateral sclerosis.

He D et al.

Genes & Diseases, 2025

39314515 (PubMed )
Supplement: mmc1.xlsx › Table_S4

Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

Huang M et al.

Translational Neurodegeneration, 2024

The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients.

He D et al.

Journal of Neurology, 2024

The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.

Martinelli I et al.

Neural Regeneration Research, 2023

36571338 (PubMed )
Supplement: NRR-18-1427_Suppl2.pdf

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Chen YP et al.

Journal of Medical Genetics, 2022

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