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[Analysis of variants of VPS13B gene in a child with Cohen syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2025

Xu Xin, Xu Hong, Li Hongying, Zhu Min, He Yikang, Zhang Ling

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a boy affected with Cohen syndrome. METHODS: A boy admitted to Children's Hospital of Nanjing Medical University in January 2021 was selected as the study subject. Genome DNA was extracted from peripheral blood samples from the child and his parents. Whole exome sequencing (WES) was carried out. And candidate variants were verified by Sanger sequencing. This study was...

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Identifiers

PMID: 41645382
DOI: 10.3760/cma.j.cn511374-20251211-00714

Genes

VPS13B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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