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

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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Bibliographic Details
Main Authors: Hu X, Huang T, Liu Y, Zhang L, Zhu L, Peng X, Zhang S
Format: Article
Language:English
Published: Dove Medical Press 2021-12-01
Series:Pharmacogenomics and Personalized Medicine
Subjects:
cohen syndrome
vps13b gene
heterozygous mutation
heterozygous deletion
Online Access:https://www.dovepress.com/identification-of-a-novel-vps13b-mutation-in-a-chinese-patient-with-co-peer-reviewed-fulltext-article-PGPM

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https://www.dovepress.com/identification-of-a-novel-vps13b-mutation-in-a-chinese-patient-with-co-peer-reviewed-fulltext-article-PGPM

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