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Minal C ̧alıs ̧kan, Elisabetta Manduchi, H. Shanker Rao, et al.
AJHG. 2019-07-03;105(1):89-107.
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.