Associated Papers
The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis Multiplex.
Tamhankar V et al.
Cureus, 2024
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
Farooqui S et al.
American Journal of Medical Genetics. Part A, 2024
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Fichtman B et al.
American Journal of Human Genetics, 2019
PIK3CA cooperates with other phosphatidylinositol 3'-kinase pathway mutations to effect oncogenic transformation.
Oda K et al.
Cancer Research, 2008
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