Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016

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). Defic...

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Publicado no:Hum Mutat
Principais autores: Clark, Wyatt T., Kasak, Laura, Bakolitsa, Constantina, Hu, Zhiqiang, Andreoletti, Gaia, Babbi, Giulia, Bromberg, Yana, Casadio, Rita, Dunbrack, Roland, Folkman, Lukas, Ford, Colby T., Jones, David, Katsonis, Panagiotis, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Mooney, Sean D., Nodzak, Conor, Pal, Lipika R., Radivojac, Predrag, Savojardo, Castrense, Shi, Xinghua, Zhou, Yaoqi, Uppal, Aneeta, Xu, Qifang, Yin, Yizhou, Pejaver, Vikas, Wang, Meng, Wei, Liping, Moult, John, Yu, G. Karen, Brenner, Steven E., LeBowitz, Jonathan H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7156275/
https://ncbi.nlm.nih.gov/pubmed/31342580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23875
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