GeneticsThe American Journal of Human GeneticsPeer-reviewed
The functional impact of 1,570 SNP-accessible missense variants in human OTC
Russell S. Lo, Gareth A. Cromie, Michelle Tang…·Aimée M. Dudley
The paper develops a high-throughput functional assay to assess the impact of 1,570 OTC missense variants, improving variant interpretation using ACMG/AMP guidelines.
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