Publications:

Profiling Receptor Tyrosine Kinase Fusions in Chinese Breast Cancers.

Frontiers In Oncology

Tao, Zhonghua Z; Liu, Jianxia J; Li, Ting T; Xu, Hong H; Chen, Kai K; Zhang, Jian J; Zhou, Hao H; Sun, Jie J; Han, Jinming J; Guo, Zhaoji Z; Yang, Hua H; Cao, Wen-Ming WM; Hu, Xichun X

Publication Date: 2021

Variant appearance in text: ATM: 4657G>A; Glu1553Lys

PubMed Link: 34650924

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 1

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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

European Journal Of Human Genetics : Ejhg

Synofzik, Matthis M; Helbig, Katherine L KL; Harmuth, Florian F; Deconinck, Tine T; Tanpaiboon, Pranoot P; Sun, Bo B; Guo, Wenting W; Wang, Ruiwu R; Palmaer, Erika E; Tang, Sha S; Schaefer, G Bradley GB; Gburek-Augustat, Janina J; Züchner, Stephan S; Krägeloh-Mann, Ingeborg I; Baets, Jonathan J; de Jonghe, Peter P; Bauer, Peter P; Chen, S R Wayne SRW; Schöls, Ludger L; Schüle, Rebecca R

Publication Date: 2018-11

Variant appearance in text: ATM: 4657G>A

PubMed Link: 29925855

Variant Present in the following documents:

• Main text

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