Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.
De Dominicis A et al.
Epilepsia, 2025
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Symonds JD et al.
Epilepsia, 2024
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