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Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
Boris Fichtman, Tamar Harel, Nitzan Biran, Fadia Zagairy, Carolyn D. Applegate, Yuval Salzberg, Tal Gilboa, Somaya Salah, Avraham Shaag, Natalia Simanovsky, Houriya Ayoubieh, Nara Sobreira, Giuseppe Punzi, Ciro Leonardo Pierri, Ada Hamosh, Orly Elpeleg, Amnon Harel, Simon Edvardson
Research output: Contribution to journal › Article › peer-review
6
Scopus
citations