Associated Papers
SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.
Okubo M et al.
Brain : a Journal of Neurology, 2026
SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.
Muelas N et al.
Annals of Clinical and Translational Neurology, 2025
41054283 (PubMed )
Supplement: ACN3-13-285-s003.pdf
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Takada S et al.
The Journal of Allergy and Clinical Immunology. Global, 2025
40687947 (PubMed )
Supplement: mmc1.docx
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