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
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
POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience.
Liu J et al.
Frontiers in Neurology, 2024
De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.
Vadgama N et al.
Human Genomics, 2022
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
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.
Morales-Rosado JA et al.
Molecular Genetics & Genomic Medicine, 2020
32597037 (PubMed )
Supplement: MGG3-8-e1341-s001.docx
POLR3A-related spastic ataxia: new mutations and a look into the phenotype.
Infante J et al.
Journal of Neurology, 2020
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