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Jeremy Schwartzentruber, Stefanie Foskolou, Helena Kilpinen, et al.
Nat Genet. 2017-12-11;50(1):54-61.
Liying Yan, Hongshan Guo, Boqiang Hu, et al.
The Journal of Biological Chemistry. 2015-12-30;291(9):4386-4398.
Federico Innocenti, Gregory M Cooper, Ian B Stanaway, et al.
PLoS Genet. 2011-05-26;7(5):e1002078.