Article

Prediction of the Effect of Naturally Occurring Missense Mutations on Cellular <i>N-Acetyl-Glucosaminidase</i> Enzymatic Activity

2019-04-05

Abstract excerpt

<h4>ABSTRACT</h4> In 2015, the Critical Assessment of Genome Interpretation (CAGI) proposed a challenge to devise a computational method for predicting the phenotypic consequences of genetic variants of a lysosomal hydrolase enzyme known as α -N-acetylglucosaminidase (NAGLU). In 2014, the Human Gene Mutation Database released that 153 NAGLU mutations associated with MPS IIIB and 90 of them are missense mutations...

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Literature Corpus work: fe2ad5a7-c4a8-55be-88cf-48313ad9f325
DOI: 10.1101/598870

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