Associated Papers
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Misceo D et al.
Brain : a Journal of Neurology, 2023
RNA Polymerases I and III in development and disease.
Watt KE et al.
Seminars in Cell & Developmental Biology, 2023
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
Kara B et al.
European Journal of Human Genetics : Ejhg, 2017
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