Varaico: Literature-Extracted Genetic Variants

Gene:POLR3F
Variant:p.R50W
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POLR3F

NM_006466.4:p.R50W

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )
Supplement: mmc4.xlsx › ALL

Evolution of the RNA Cleavage Subunit C11/RPC10, and Recycling by RNA Polymerase III.

Mishra S et al.

Journal of Cellular Immunology, 2022

RNA Polymerase III Subunit Mutations in Genetic Diseases.

Lata E et al.

Frontiers in Molecular Biosciences, 2021

Structure of human RNA polymerase III.

Ramsay EP et al.

Nature Communications, 2020

33335104 (PubMed )
Supplement: 41467_2020_20262_MOESM4_ESM.xlsx › Sheet1

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins.

Carter-Timofte ME et al.

Neurology(r) Neuroimmunology & Neuroinflammation, 2018

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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."