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 › abundance_map_scores_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 › ddGun_scores
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis.
Ikeda A et al.
Pnas Nexus, 2024
39131911 (PubMed )
Supplement: pgae319_supplementary_data.pdf
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Cady J et al.
Annals of Neurology, 2015
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