Varaico: Literature-Extracted Genetic Variants

Gene:POLR3B
Variant:p.N542S
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POLR3B

NM_018082.6:p.N542S

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

De Dominicis A et al.

Epilepsia, 2025

A POLR3B-variant reveals a Pol III transcriptome response dependent on La protein/SSB.

Mattijssen S et al.

Biorxiv : the Preprint Server for Biology, 2024

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