Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.
Yang F et al.
Clinical Genetics, 2023
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
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