BioinformaticsbioRxivPreprint
Prediction of the Effect of Naturally Occurring Missense Mutations on Cellular N-Acetyl-Glucosaminidase Enzymatic Activity
Colby T. Ford, Aneeta Uppal, Conor Nodzak, Xinghua Mindy Shi
The paper predicts the effect of NAGLU missense mutations on enzymatic activity using machine learning and PolyPhen-2 scores, finding they are good predictors of functionality.
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