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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Mitsuko Nakashima, Mitsuhiro Kato, Masaru Matsukura, Ryutaro Kira, Lock Hock Ngu, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Satomi Mitsuhashi, Hirotomo Saitsu, Naomichi Matsumoto

2020Journal of Human Genetics38 citationsDOIOpen Access PDF

Topics & Concepts

CullinUbiquitinBiologyProteasomeUbiquitin ligaseFrameshift mutationCell biologyGeneticsMutationGeneUbiquitin and proteasome pathwaysGenetics and Neurodevelopmental DisordersAutophagy in Disease and Therapy
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms | Litcius