Publications:

Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: GAA: 1551+2T>G

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

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A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy.

International Journal Of Clinical And Experimental Pathology

Xu, Lingling L; Zhang, Lidan L; Zhong, Liangying L; Huang, Xueqiong X; Li, Suping S; Cheng, Yucai Y; Liang, Yujian Y; Pei, Yuxin Y; Huang, Huimin H; Tang, Wen W; Zhang, Cheng C

Publication Date: 2017

Variant appearance in text: GAA: 1551+2T>G

PubMed Link: 31966564

Variant Present in the following documents:

• Main text

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