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Anthony Aylward, Mei-Lin Okino, Paola Benaglio, et al.
PLoS Genet. 2021-05-13;17(5):e1009531.
Ilakya Selvarajan, Anu Toropainen, Kristina M Garske, et al.
Am J Hum Genet. 2021-03-04;108(3):411-430.
Bramswig NC, Everett LJ, Schug J, et al.
The Journal Of Clinical Investigation. 2013-03-01;123(3):1275-1284.