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1.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Am J Hum Genet
; 105(1): 48-64, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31178128
2.
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
Nat Commun
; 10(1): 605, 2019 02 05.
Article
in English
| MEDLINE | ID: mdl-30723199
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