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Ilakya Selvarajan, Anu Toropainen, Kristina M Garske, et al.
Am J Hum Genet. 2021-03-04;108(3):411-430.
Jeremy Schwartzentruber, Stefanie Foskolou, Helena Kilpinen, et al.
Nat Genet. 2017-12-11;50(1):54-61.
Bramswig NC, Everett LJ, Schug J, et al.
The Journal Of Clinical Investigation. 2013-03-01;123(3):1275-1284.