Publications:

Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China.

Frontiers In Neurology

Hu, Chaoping C; Li, Xihua X; Shi, Yiyun Y; Zhu, Xiaomei X; Zhao, Lei L; Li, Wenhui W; Zhou, Shuizhen S; Wang, Yi Y

Publication Date: 2022

Variant appearance in text: SMA: 835G>C

PubMed Link: 36605788

Variant Present in the following documents:

• Main text
• fneur-13-1038012.pdf

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Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in DMD in an Asymptomatic Male and a DMD Patient.

Frontiers In Genetics

Bai, Ying Y; Liu, Ju J; Xu, Jinghan J; Sun, Yue Y; Li, Jingjing J; Gao, Yong Y; Liu, Lina L; Jia, Cangcang C; Kong, Xiangdong X; Wang, Li L

Publication Date: 2022

Variant appearance in text: SMA: 835G>C

PubMed Link: 35615378

Variant Present in the following documents:

• Main text
• fgene-13-878806.pdf

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Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.

Bmc Medical Genetics

Sun, Yingjie Y; Kong, Xiangdong X; Zhao, Zhenhua Z; Zhao, Xuechao X

Publication Date: 2020-06-18

Variant appearance in text: SMA: 835G>C

PubMed Link: 32552676

Variant Present in the following documents:

• 12881_2020_Article_1069.pdf

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