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[Genetic analysis of a child with Kartagener syndrome due to novel compound heterozygous variants of DNAH5 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2023

Zhang Shan, Wang Chaobing, Zhang Yong, Hu Yandong, Li Xu, Zhi Chuang

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Kartagener syndrome (KTS). METHODS: Trio-whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. Changes in protein structure due to missense variants were simulated and analyzed, and the Human Splicing Finder 3.0 (HSF 3.0) online platform was used to...

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Identifiers

PMID: 36585005
DOI: 10.3760/cma.j.cn511374-20220110-00020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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