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Article

Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Dec 2020

Liu Yalan, Wen Jie, Sang Shushan, Mei Lingyun, He Chufeng, Jiang Lu, Huang Sida, Feng Yong

Abstract excerpt

OBJECTIVES: The identification of gene mutations enables more appropriate genetic counseling and proper medical management for EVA patients. The purpose of this study was to validate the accuracy and sensitivity of our method for comprehensive mutation detection in EVA, and summarize these data to explore a more accurate and convenient genetic diagnosis method. METHODS: A multiplex PCR sequencing panel was...

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PMID: 32447495
DOI: 10.1007/s00405-020-06050-3

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