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De novo, heterozygous, loss‐of‐function mutations in SYNGAP..:

Parker, Michael J. ; Fryer, Alan E. ; Shears, Deborah J....
American Journal of Medical Genetics Part A.  167 (2015)  10 - p. 2231-2237 , 2015
Link: https://doi.org/10.1002/ajmg.a.37189