HuGE Literature Finder
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Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study. Neurogenetics 2021 Nov . Min Ji-You, Park Seo-Jin, Kang Eun-Joo, Hwang Seung-Yong, Han Sung-H |
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul . Rutten Julie W, Van Eijsden Bastian J, Duering Marco, Jouvent Eric, Opherk Christian, Pantoni Leonardo, Federico Antonio, Dichgans Martin, Markus Hugh S, Chabriat Hugues, Lesnik Oberstein Saskia A |
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. Annals of clinical and translational neurology 2016 Nov 3 (11): 844-853. Rutten Julie W, Dauwerse Hans G, Gravesteijn Gido, van Belzen Martine J, van der Grond Jeroen, Polke James M, Bernal-Quiros Manuel, Lesnik Oberstein Saskia A |
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