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A Chinese SCA36 pedigree analysis of NOP56 expansion region based on long-read sequencing

Introduction: Spinocerebellar ataxias 36 (SCA36) is the neurodegenerative disease caused by the GGCCTG Hexanucleotide repeat expansions in NOP56, which is too long to sequence using short-read sequencing. Single molecule real time (SMRT) sequencing can sequence across disease-causing repeat expansio...

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Detalles Bibliográficos
Autores principales:	Zou, Jinlong, Wang, Fengyu, Gong, Zhenping, Wang, Runrun, Chen, Shuai, Zhang, Haohan, Sun, Ruihua, Gao, Chenhao, Li, Wei, Shang, Junkui, Zhang, Jiewen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10083286/ https://www.ncbi.nlm.nih.gov/pubmed/37051597 http://dx.doi.org/10.3389/fgene.2023.1110307

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