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PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency

OBJECTIVE: To analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and explore the correlation between genotype, variant allele frequency (VAF), and phenotypic severity. METHODS: Clinical data and peripheral blood samples of 11 male mosaic patients we...

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Detalles Bibliográficos
Autores principales:	Chen, Yi, Yang, Xiaoxu, Chen, Jiaoyang, Yang, Xiaoling, Yang, Ying, Liu, Aijie, Zhang, Xiaoli, Wu, Wenjuan, Sun, Dan, Yang, Zhixian, Jiang, Yuwu, Zhang, Yuehua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9669318/ https://www.ncbi.nlm.nih.gov/pubmed/36408521 http://dx.doi.org/10.3389/fneur.2022.1041509

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