Associated Papers
Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathy.
Fan C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
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
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
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