Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › POLR3B
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.
De Dominicis A et al.
Epilepsia, 2025
Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.
Yang F et al.
Clinical Genetics, 2023
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D et al.
American Journal of Human Genetics, 2021
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