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[Analysis of result of gene screening of neonatal deafness in Huizhou and surrounding urban areas].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2021

Zeng Yun, Lu Xuanting, Wu Lifang, Zheng Yan

Abstract excerpt

OBJECTIVE: To detect common pathogenic variants associated with congenital deafness among neonates from Huizhou and surrounding areas and discuss its implications. METHODS: Thirteen hot-spot mutations in four most common pathogenic genes were screened among 20 934 neonates from March 2017 to December 2019. RESULTS: In total 760 neonates were found to carry common pathogenic variants (3.63%). Sixty two neonates...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34839501
DOI: 10.3760/cma.j.cn511374-20201104-00775

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