Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

Published 2019 View Full Article

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Title
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
Authors
Keywords
febrile encephalopathy, nucleoporins, NUP214, NUP88, nuclear pore complex, central channel particles, neurodegeneration
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 105, Issue 1, Pages 48-64
Publisher
Elsevier BV
Online
2019-06-06
DOI
10.1016/j.ajhg.2019.05.003

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