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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.Brain : a Journal of Neurology|December 24, 2016
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathyTzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, et al.Pageof 6