Kumar, Raman ;
Gordon, Christopher T ;
Shaw, Marie...
Kumar , R , Gordon , C T , Shaw , M , Hubert , L , Carroll , R , Rio , M , Murray , L , Leffler , M , Dudding-Byth , T , Oufadem , M , Lalani , S R , Lewis , A M , Xia , F , Tam , A , Webster , R , Brammah , S , Filippini , F , Spies , J , Minoche , A E , Cowley , M J , Risen , S , Powell-Hamilton , N N , Tusi , J E , Immken , L , Nagakura , H , Bole-Feysot , C , Nitschké , P , Garrigue , A , de Saint Basile , G , Kivuva , E , Rendon , A , Munnich , A , Newman , W , Kerr , B , Besmond , C , Rosenfeld , J A , Amiel , J , Gecz , J & DDD Study 2017 , ' A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations ' , American Journal of Human Genetics , vol. 101 , no. 6 , pp. 995-1005 . https://doi.org/10.1016/j.ajhg.2017.10.009.
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2017
