Associated Papers
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
Kara B et al.
European Journal of Human Genetics : Ejhg, 2017
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Weaver KN et al.
American Journal of Human Genetics, 2015
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