Associated Papers
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Xie MJ et al.
Plos Genetics, 2023
Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps.
Xie MJ et al.
Biorxiv : the Preprint Server for Biology, 2023
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
Sirr A et al.
Journal of Inherited Metabolic Disease, 2020
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