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VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.
Eur J Hum Genet. 2014 Sep;22(9):1149-52. doi: 10.1038/ejhg.2013.279. Epub 2013 Dec 4.
Eur J Hum Genet. 2014.
PMID: 24301059
Free PMC article.
Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.
Cardot Bauters C, Leteurtre E, Carnaille B, Do Cao C, Espiard S, Penven M, Destailleur E, Szuster I, Lovecchio T, Leclerc J, Frénois F, Esquivel E, Dahia PLM, Ait-Yahya E, Crépin M, Pigny P.
Cardot Bauters C, et al. Among authors: destailleur e.
Endocr Connect. 2020 Oct;9(10):1042-1050. doi: 10.1530/EC-20-0460.
Endocr Connect. 2020.
PMID: 33112832
Free PMC article.
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