Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHumansCadherinsHigh-Throughput Nucleotide SequencingInfantNewborn
[Analysis of pathogenic variant carriage for MYO7A, PCDH15, and CDH23 genes among newborns based on high-throughput sequencing technique].
Yahong Li, Yun Sun, Xin Wang, Xianwei Guan, Tao Jiang, Zhengfeng Xu
Published: 202510.3760/cma.j.cn511374-20250415-00225
Abstract
OBJECTIVE: To analyze the carrier rates and profiles of pathogenic and likely pathogenic variants for hearing loss-related genes MYO7A, PCDH15, and CDH23 among neonates in Nanjing city through targeted next-generation sequencing (NGS). METHODS: Heel-…
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