Publications:

Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.

Biomed Research International

Han, Shuai S; Xu, Hong H; Zheng, Jinxian J; Sun, Junhui J; Feng, Xue X; Wang, Yue Y; Ye, Wen W; Ke, Qing Q; Ren, Yanwei Y; Yao, Shulie S; Zhang, Songying S; Chen, Jianfen J; Griggs, Robert C RC; Zhao, Zhengyan Z; Qi, Ming M; Gatheridge, Michele A MA

Publication Date: 2020

Variant appearance in text: DMD: 10364dupT; Asn3456fs

PubMed Link: 33029525

Variant Present in the following documents:

• Main text
• BMRI2020-8396429.pdf

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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: 10364_10365insT

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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