Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.
Zhou W et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
39485938 (PubMed )
Supplement: table_s1-4_v18_jan-2024_zjae175.xlsx › Table_S2_variant_list
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
39565987 (PubMed )
Supplement: nejmoa2314768_appendix.pdf
The human RNA polymerase I structure reveals an HMG-like docking domain specific to metazoans.
Daiß JL et al.
Life Science Alliance, 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
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L et al.
Neurology. Genetics, 2019
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua I et al.
Molecular Genetics & Genomic Medicine, 2019
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
Ghesh L et al.
American Journal of Medical Genetics. Part A, 2019
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I et al.
Nature Communications, 2015
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0
34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_2
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