Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges
出版年份 2017 全文链接
标题
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU
(Human N-acetyl-glucosaminidase) and UBE2I
(Human SUMO-ligase) challenges
作者
关键词
-
出版物
HUMAN MUTATION
Volume 38, Issue 9, Pages 1109-1122
出版商
Wiley
发表日期
2017-05-26
DOI
10.1002/humu.23267
参考文献
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