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Jeremy Schwartzentruber, Stefanie Foskolou, Helena Kilpinen, et al.
Nat Genet. 2017-12-11;50(1):54-61.
Mete Civelek, Ying Wu, Calvin Pan, et al.
AJHG. 2017-03-02;100(3):428–443.
Tanya M Teslovich, Kiran Musunuru, Albert V Smith, et al.
Nature. 2010-08-05;466(7307):707-13.