Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease.
Naseer MI et al.
Frontiers in Pediatrics, 2022
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Ching-López A et al.
International Journal of Molecular Sciences, 2021
A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations.
Han JY et al.
Journal of Clinical Neurology (seoul, Korea), 2020
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2019
Select a paper to view details