Muir, Alison M ;
Cohen, Jennifer L ;
Sheppard, Sarah E...
Muir , A M , Cohen , J L , Sheppard , S E , Guttipatti , P , Lo , T Y , Weed , N , Doherty , D , DeMarzo , D , Fagerberg , C R , Kjærsgaard , L , Larsen , M J , Rump , P , Löhner , K , Hirsch , Y , Zeevi , D A , Zackai , E H , Bhoj , E , Song , Y & Mefford , H C 2020 , ' Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities ' , American Journal of Human Genetics , vol. 106 , no. 5 , pp. 623-631 . https://doi.org/10.1016/j.ajhg.2020.03.009.
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2020
