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Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.
Guey S, Kraemer M, Hervé D, Ludwig T, Kossorotoff M, Bergametti F, Schwitalla JC, Choi S, Broseus L, Callebaut I, Genin E, Tournier-Lasserve E; FREX consortium. Guey S, et al. Among authors: schwitalla jc. Eur J Hum Genet. 2017 Aug;25(8):995-1003. doi: 10.1038/ejhg.2017.92. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635953 Free PMC article.
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.
Guey S, Grangeon L, Brunelle F, Bergametti F, Amiel J, Lyonnet S, Delaforge A, Arnould M, Desnous B, Bellesme C, Hervé D, Schwitalla JC, Kraemer M, Tournier-Lasserve E, Kossorotoff M. Guey S, et al. Among authors: schwitalla jc. J Med Genet. 2017 Aug;54(8):550-557. doi: 10.1136/jmedgenet-2016-104432. Epub 2017 Mar 25. J Med Genet. 2017. PMID: 28343148
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