Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Understanding the molecular basis of the mutation in the RNA polymerase III subunit Rpc10 (R41W)- associated with hypomyelinating leukodystrophy in the yeast homolog Rpc11.
Mishra S et al.
Biochemical and Biophysical Research Communications, 2025
Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.
Perrier S et al.
Human Mutation, 2024
RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E et al.
Frontiers in Molecular Biosciences, 2021
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Dorboz I et al.
Neurology. Genetics, 2018
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