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EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis

机译：ext1和ext2变体在22家中骨髓组织中有多种骨孔血清：七种新的遗传和预催化遗传检测和产前诊断的促销

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期刊名称 Frontiers in Genetics
作者
Ye Wang; Liangying Zhong; Yan Xu; Lei Ding; Yuanjun Ji; Sacha Schutz; Claude Férec; David N. Cooper; Caixia Xu; Jian-Min Chen; Yanmin Luo;
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作者单位

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年(卷),期 2020(-1),-1
年度 2020
页码 -1
总页数 13
原文格式 PDF
正文语种
中图分类遗传学;
关键词

机译：Ext1.;

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外文文献
专利

1. Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas [J] . Tanteles George A., Nicolaou Michael, Neocleous Vassos, Journal of genetics . 2015,第4期

机译：遗传性多骨软骨瘤的塞浦路斯家庭中EXT1和EXT2的遗传筛选
2. Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas [J] . Angelos Alexandrou, Carolina Sismani, Christos Shammas, Journal of genetics . 2015,第4期

机译：遗传性多发性骨软骨瘤的塞浦路斯家庭中EXT1和EXT2的遗传筛选
3. Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas [J] . Xu Yang, Kang Qinglin, Zhang Zhenlin Molecular medicine reports . 2017,第4aPta3期

机译：六种患有多发性骨孔血清血清的六种中国家庭ext1和EXT2基因的突变鉴定
4. A chi-square test for detecting multiple joint genetic variants in genome-wide association studies [C] . Ik-Soo Huh, Sohee-Oh, Park Taesung 2011 IEEE International Conference on Bioinformatics and Biomedicine Workshops . 2011

机译：在全基因组关联研究中检测多个关节遗传变异的卡方检验
5. Variant-curation and database instantiation (Variant-CADI): An integrated software system for the automation of collection, annotation and management of variations in clinical genetic testing [D] . Hallier, Andrea Rae. 2016

机译：变形 - 策划和数据库实例化（Variant-CADI）：用于临床遗传检测的自动化，注释和管理的自动化集成软件系统
6. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing [O] . Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, -1

机译：靶向测序在中国家庭中鉴定出一种新型的SH2D1A致病变异：载体筛选和产前基因检测
7. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing. [O] . Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, 2017

机译：靶向测序鉴定了中国家族中的新型sH2D1a致病变体：载体筛选和产前基因检测。

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis

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