Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia
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Publisher
England: Nature Publishing Group
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Language
English
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England: Nature Publishing Group
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Contents
RNA polymerase III (Pol III) is an essential 17-subunit complex responsible for the transcription of small housekeeping RNAs such as transfer RNAs and 5S ribosomal RNA. Biallelic variants in four genes (POLR3A, POLR3B, and POLR1C and POLR3K) encoding Pol III subunits have previously been found in individuals with (neuro-) developmental disorders. I...
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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6906301
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6906301
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-019-0427-0
