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Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient

机译：靶向的下一代测序确定了CDH23基因中的新化合物杂合变体，导致中国患者中的亚瑟综合征ID

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Lianmei Zhang; Jingliang Cheng; Qi Zhou; Md. Asaduzzaman Khan; Jiewen Fu; Chengxia Duan; Suan Sun; Hongbin Lv; Junjiang Fu;
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1. Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B. [J] . Xiaoming Wei, Yan Sun, Jiansheng Xie, Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2012,第23a24期

机译：下一代测序技术可在一名患有亚瑟氏综合症1B的中国患者的MYO7A中鉴定出一种新型的复合杂合突变。
2. Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I [J] . Satomi Okano, Yoshio Makita, Akihiro Katada, Human genome variation. . 2019,第1期

机译：I型Usher综合征患者的新型复合杂合CDH23变体
3. Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III [J] . Mei Libin, Huang Yanru, Pan Qian, Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2015,第Null期

机译：有针对性的下一代测序技术可确定DYNC2H1的新型复合杂合突变，该胎儿患有短肋多指综合征，III型
4. Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta [C] . D. A. Petukhova, E. E. Gurinova, A. L. Sukhomyasova, International Symposium on Bioinformatics Research and Applications . 2020

机译：通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
5. Statistical methods for genome variant calling and population genetic inference from next-generation sequencing data. [D] . Ma, Xin. 2011

机译：从下一代测序数据进行基因组变异调用和群体遗传推断的统计方法。
6. Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient [O] . Lianmei Zhang, Jingliang Cheng, Qi Zhou, 2020

机译：有针对性的下一代测序鉴定了导致中国患者迎来综合征类型ID的CDH23基因中的新型化合物杂合变异。
7. Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I [O] . Satomi Okano, Yoshio Makita, Akihiro Katada, 2019

机译：患有迎膜综合征I型患者中的新型化合物杂合酶CDH23变体

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient

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