Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.F2597S
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RANBP2

NM_006267.5:p.F2597S

Associated Papers

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.

Hussein Y et al.

Epilepsia Open, 2024

39509559 (PubMed )
Supplement: EPI4-9-2443-s002.docx

Acute necrotizing encephalopathy associated with RANBP2 mutation: value of MRI findings for diagnosis and intervention.

Sarigecili E et al.

Acta Neurologica Belgica, 2023

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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."