Varaico: Literature-Extracted Genetic Variants

Gene:POLR3A
Variant:p.K590_P591Splc
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POLR3A

NM_007055.4:p.K590_P591Splc

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
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