Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.L450F
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RANBP2

NM_006267.5:p.L450F

Associated Papers

Unraveling the Diversity of RANBP2: Protein Isoforms and Implications for Cellular Function and Human Disease.

Desgraupes S et al.

Journal of Molecular Biology, 2025

De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.

Meroni A et al.

American Journal of Medical Genetics. Part A, 2023

Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.

deCampo D et al.

Frontiers in Neurology, 2023

37077567 (PubMed )
Supplement: Data_Sheet_1.pdf

A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy.

Hu Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation.

Hartley M et al.

Child Neurology Open, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."