An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families - Koko - 2021 - Annals of Human Genetics - Wiley Online Library
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PDF) NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum | Physiological Reviews
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Biomolecules | Free Full-Text | Mechanistic Link between Vitamin B12 and Alzheimer’s Disease
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Frontiers | Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors
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