Associated Papers
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A et al.
Journal of Medical Genetics, 2023
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.
Choquet K et al.
The Journal of Biological Chemistry, 2019
30898877 (PubMed )
Supplement: supp_RA118.006271_141325_2_supp_296209_pnx8q1.xlsx › Table_S5
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