Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations.
Yang HJ et al.
Neurology. Genetics, 2022
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Diffuse hypomyelination is not obligate for POLR3-related disorders.
La Piana R et al.
Neurology, 2016
Genome-wide association study identifies multiple susceptibility loci for glioma.
Kinnersley B et al.
Nature Communications, 2015
26424050 (PubMed )
Supplement: ncomms9559-s1.pdf
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