Publications:

Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.

Journal Of Zhejiang University. Science. B

Yang, Yan-Mei YM; Yan, Kai K; Liu, Bei B; Chen, Min M; Wang, Li-Ya LY; Huang, Ying-Zhi YZ; Qian, Ye-Qing YQ; Sun, Yi-Xi YX; Li, Hong-Ge HG; Dong, Min-Yue MY

Publication Date: 2019

Variant appearance in text: DMD: 8086_8087insC; Leu2696ProfsX14

PubMed Link: 31379145

Variant Present in the following documents:

• Main text

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: DMD: 8086_8087insC; Leu2696ProfsX14

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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