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NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study

Sumin Zhao, Wanyang Wang, Yaoshen Wang, Rui Han, Chunna Fan, Peixiang Ni, Fengyu Guo, Fanwei Zeng, Qiaona Yang, Yun Yang, Yan Sun, Xinhua Zhang, Yan Chen, Baosheng Zhu, Wangwei Cai, Shaoke Chen, Ren Cai, Xiaoling Guo, Chonglin Zhang, Yuqiu Zhou, Shuodan Huang, Yanhui Liu, Biyan Chen, Shanhuo Yan, Yajun Chen, Hongmei Ding, Xuan Shang, Xiangmin Xu, Junwei Sun, Zhiyu Peng

2020European Journal of Human Genetics29 citationsDOIOpen Access PDF

Topics & Concepts

SMN1SMA*Spinal muscular atrophyConcordanceGenotypeEthnic groupExonPopulationMedicineGeneticsInternal medicineBioinformaticsBiologyGeneComputer scienceEnvironmental healthSociologyAnthropologyAlgorithmNeurogenetic and Muscular Disorders ResearchRNA modifications and cancerCancer-related gene regulation
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study | Litcius