GeneticsThe American Journal of Human GeneticsPeer-reviewed
Landscapes of missense variant impact for human superoxide dismutase 1
Anna Axakova, M. Ding, Atina G. Coté…·Frederick P. Roth
The paper measures the functional impact of over two thousand SOD1 missense variants using saturation mutagenesis and cell-based assays, reclassifying 41% of previously uncertain variants as pathogenic.
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