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Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

机译：连锁和外显子组测序的组合分析确定了中国先天性白内障家庭的致病突变

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Xueyuan Jia; Feng Zhang; Jing Bai; Linghan Gao; Xuelong Zhang; Haiming Sun; Donglin Sun; Rongwei Guan; Wenjing Sun; Lidan Xu; Zhichao Yue; Yang Yu; Songbin Fu;
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1. Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract [J] . Xueyuan Jia, Feng Zhang, Jing Bai, BMC Medical Genetics . 2013,第1期

机译：连锁和外显子组测序的组合分析确定了中国先天性白内障家庭的致病突变
2. Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract [J] . Peng Chen1, Hao Chen1, Xiao-Jing Pan2, 国际眼科杂志：英文版 . 2018,第010期

机译：通过靶向外显子组测序在中国先天性白内障家庭中鉴定出CRYBB1 / CRYBB2的新突变
3. A novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing [J] . Liu Shuaimei, Zhu Peiran, Ni Mengxia, Ophthalmic genetics . 2018,第1期

机译：全外末端测序鉴定先天性核白内障的中国家庭中的一种新型突变
4. A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data [C] . Roberta Spinelli, Rocco Piazza, Alessandra Pirola, International meeting on computational intelligence methods for bioinformatics and biostatistics . 2012

机译：在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract [O] . Xueyuan Jia, Feng Zhang, Jing Bai, 2013

机译：连锁和外显子组测序的组合分析确定了中国先天性白内障家庭的致病突变
7. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract [O] . Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, 2018

机译：全脂序列测序鉴定了肾脏和泌尿道先天性异常的家庭中的致病突变

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

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