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The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children

Objectives: To study the genetic and clinical characteristics of Chinese children with pathogenic proline-rich transmembrane protein 2 (PRRT2) gene-associated disorders. Methods: Targeted next generation sequencing (NGS) was used to identify pathogenic PRRT2 variations in Chinese children with epile...

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Detalles Bibliográficos
Autores principales:	Luo, Han-yu, Xie, Ling-ling, Hong, Si-qi, Li, Xiu-juan, Li, Mei, Hu, Yue, Ma, Jian-nan, Wu, Peng, Zhong, Min, Cheng, Min, Li, Ting-song, Jiang, Li
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141857/ https://www.ncbi.nlm.nih.gov/pubmed/34041212 http://dx.doi.org/10.3389/fped.2021.676616

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