Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing

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Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing

Xiaoyun Hu, Tao Huang, Yun Liu, Lina Zhang, Li Zhu, Xiaohong Peng, Sufang Zhang Department of Pediatrics, The First Affiliated Hospital of Nanchang University, Nanchang, People’s Republic of ChinaCorrespondence: Tao Huang Tel +86 13970012590Email huangtao99@email.cnObjective: The present study aims...

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Détails bibliographiques
Auteurs principaux:	Hu X, Huang T, Liu Y, Zhang L, Zhu L, Peng X, Zhang S
Format:	article
Langue:	EN
Publié:	Dove Medical Press 2021
Sujets:	cohen syndrome vps13b gene heterozygous mutation heterozygous deletion Therapeutics. Pharmacology RM1-950
Accès en ligne:	https://doaj.org/article/d34b9c09195548ef8bc624ffe0afb0ff
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