Associated Papers
RNA-based discovery and correction of splicing defects caused by POLR3A missense mutations.
Shkreta L et al.
Molecular Therapy. Nucleic Acids, 2026
41732205 (PubMed )
Supplement: mmc2.xlsx › POLR3A-clinvar_result
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable4
Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.
Wu SW et al.
Italian Journal of Pediatrics, 2021
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.
Zanette V et al.
Neurology. Genetics, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Harting I et al.
Neurogenetics, 2020
Select a paper to view details