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
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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
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