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Paper Details

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
0
2023
Author NameAffiliation
Alexander J M DingemansThe Netherlands Donders Institute for Brain, Radboud University
Orrin DevinskyNYU Grossman School of Medicine
Irene ValenzuelaVall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute
Christian GilissenThe Netherlands Radboud Institute for Molecular Life Sciences
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Release 1.2