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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Eur J Hum Genet. 2020 Jan;28(1):31-39. doi: 10.1038/s41431-019-0427-0. Epub 2019 May 14.
Eur J Hum Genet. 2020.
PMID: 31089205
Free PMC article.
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.
Middelkamp S, Vlaar JM, Giltay J, Korzelius J, Besselink N, Boymans S, Janssen R, de la Fonteijne L, van Binsbergen E, van Roosmalen MJ, Hochstenbach R, Giachino D, Talkowski ME, Kloosterman WP, Cuppen E.
Middelkamp S, et al. Among authors: vlaar jm.
Genome Med. 2019 Dec 4;11(1):79. doi: 10.1186/s13073-019-0692-0.
Genome Med. 2019.
PMID: 31801603
Free PMC article.
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Recurrent exon-deleting activating mutations in AHR act as drivers of urinary tract cancer.
Vlaar JM, Borgman A, Kalkhoven E, Westland D, Besselink N, Shale C, Faltas BM, Priestley P, Kuijk E, Cuppen E.
Vlaar JM, et al.
Sci Rep. 2022 Jun 16;12(1):10081. doi: 10.1038/s41598-022-14256-0.
Sci Rep. 2022.
PMID: 35710704
Free PMC article.
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