Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.
Yang F et al.
Clinical Genetics, 2023
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.
Krygier M et al.
Clinical Genetics, 2019
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