Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

Reza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, Marcello Scala, Khalid Hundallah, Mariasavina Severino, Mohamed S Abdel-Hamid, Jill A Rosenfeld, Darius Ebrahimi-Fakhari, Zahir Ali, Fazal Rahim, Henry Houlden, Sharon A Tooze, Norah S Alsaleh, Maha S Zaki

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Neuroscience

Biochemistry, Genetics and Molecular Biology

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