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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
  • Hadassah University Medical Centre
  • Bar-Ilan University
  • Johns Hopkins University
  • Baylor-Hopkins Center for Mendelian Genomics
  • University of Bari

Research output: Contribution to journal › Article › peer-review

33 Scopus citations

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Medicine and Dentistry

Immunology and Microbiology