Publications:

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: 2947C>T; Gln983Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.

Plos One

Seferian, Andreea Mihaela AM; Moraux, Amélie A; Annoussamy, Mélanie M; Canal, Aurélie A; Decostre, Valérie V; Diebate, Oumar O; Le Moing, Anne-Gaëlle AG; Gidaro, Teresa T; Deconinck, Nicolas N; Van Parys, Frauke F; Vereecke, Wendy W; Wittevrongel, Sylvia S; Mayer, Michèle M; Maincent, Kim K; Desguerre, Isabelle I; Thémar-Noël, Christine C; Cuisset, Jean-Marie JM; Tiffreau, Vincent V; Denis, Severine S; Jousten, Virginie V; Quijano-Roy, Susana S; Voit, Thomas T; Hogrel, Jean-Yves JY; Servais, Laurent L

Publication Date: 2015

Variant appearance in text: DMD: 2947C>T

PubMed Link: 25643053

Variant Present in the following documents:

• Main text
• pone.0113999.pdf

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