Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM7_ESM.xlsx › data.and.gnomad.MAF.chi.sq.BH.c
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
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.
Ogunjimi B et al.
The Journal of Clinical Investigation, 2017
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06P-01A.domain
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