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
POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review.
Zhou M et al.
Frontiers in Genetics, 2026
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2024
38348603 (PubMed )
Supplement: MGG3-12-e2274-s001.pdf
Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders.
Zea Vera A et al.
Movement Disorders Clinical Practice, 2023
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
36140376 (PubMed )
Supplement: biomedicines-10-02276-s001.zip › Supplementary_Table_S1.xlsx › HGMD_database
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
Perrier S et al.
American Journal of Medical Genetics. Part A, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
Majethia P et al.
American Journal of Medical Genetics. Part A, 2021
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Wambach JA et al.
American Journal of Human Genetics, 2018
Select a paper to view details