Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

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 in...

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Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Terhal, Paulien A., Vlaar, Judith M., Middelkamp, Sjors, Nievelstein, Rutger A. J., Nikkels, Peter G. J., Ross, Jamila, Créton, Marijn, Bos, Jeroen W., Voskuil-Kerkhof, Elsbeth S. M., Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L. I.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2019
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906301/
https://ncbi.nlm.nih.gov/pubmed/31089205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0427-0
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