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NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Archetypal disease-causing mutations are cysteine-affecting variants within the 34 epidermal growth factor-like repeat (EGFr...

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Detalles Bibliográficos
Autores principales:	Hu, Yacen, Sun, Qiying, Zhou, Yafang, Yi, Fang, Tang, Haiyun, Yao, Lingyan, Tian, Yun, Xie, Nina, Luo, Mengchuan, Wang, Zhiqin, Liao, Xinxin, Xu, Hongwei, Zhou, Lin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320595/ https://www.ncbi.nlm.nih.gov/pubmed/34335700 http://dx.doi.org/10.3389/fgene.2021.705284

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