Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.T138I
Back to variants list

SOD1

NM_000454.5:p.T138I

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 › ClinVarVariants_LLRps

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 › Invitae_ReferenceSet

Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.

Miller TM et al.

The New England Journal of Medicine, 2022

36129998 (PubMed )
Supplement: nejmoa2204705_appendix.pdf

Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.

Mesaros M et al.

Genes, 2021

35052416 (PubMed )
Supplement: genes-13-00076-s001.zip › genes-1514337-supplementary.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."