| 1 | ASXL2, SHAPNS |
| De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. | |
| Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network. | |
| Am J Hum Genet 99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. 2016 | |