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Jeremy Schwartzentruber, Stefanie Foskolou, Helena Kilpinen, et al.
Nat Genet. 2017-12-11;50(1):54-61.
Madhusudhan Bysani, Ola Wallerman, Susanne Bornelöv, et al.
BMC Medical Genomics. 2013-11-08;6(50)
Kerrin S Small, Asa K Hedman, Elin Grundberg, et al.
Nat Genet.. 2011-05-15;43(6):561-4.