Varaico: Literature-Extracted Genetic Variants

Gene:POLR3E
Variant:p.D40H
Back to variants list

POLR3E

NM_018119.4:p.D40H

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )
Supplement: mmc4.xlsx › ALL

RNA Polymerase III Subunit Mutations in Genetic Diseases.

Lata E et al.

Frontiers in Molecular Biosciences, 2021

A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.

Ramanathan A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."