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Assessment of predicted enzymatic activity of α‐ N ‐acetylglucosaminidase variants of unknown significance for CAGI 2016

25 Jul 2019

Abstract excerpt

The NAGLU challenge of the fourth edition of the Critical Assessment of Genome Interpretation experiment (CAGI4) in 2016, invited participants to predict the impact of variants of unknown significance (VUS) on the enzymatic activity of the lysosomal hydrolase α-N-acetylglucosaminidase (NAGLU). Deficiencies in NAGLU activity lead to a rare, monogenic, recessive lysosomal storage disorder, Sanfilippo syndrome type...

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PMID: 31342580
DOI: 10.1002/humu.23875

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