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
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
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.
Minnerop M et al.
Brain : a Journal of Neurology, 2018
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