Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
Journal of Medical Genetics2020Vol. 58(11), pp. 743–751
Citations Over TimeTop 17% of 2020 papers
Zhiying Xie, Chengyue Sun, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Gao Wang, Diana M. Cornejo-Sanchez, Thashi Bharadwaj, Yan Jin, Lingxiang Zhang, Nicolás Pineda-Trujillo, Wei Zhang, Suzanne M. Leal, Isabelle Schrauwen, Zhaoxia Wang, Yun Yuan
Abstract
Our study highlights the high diagnostic utility of implementing a SGTS pipeline in dystrophinopathies with intronic variants and complex SVs.
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