Publications:

Novel and de novo mutations in pediatric refractory epilepsy.

Molecular Brain

Liu, Jing J; Tong, Lili L; Song, Shuangshuang S; Niu, Yue Y; Li, Jun J; Wu, Xiu X; Zhang, Jie J; Zai, Clement C CC; Luo, Fang F; Wu, Jian J; Li, Haiyin H; Wong, Albert H C AHC; Sun, Ruopeng R; Liu, Fang F; Li, Baomin B

Publication Date: 2018-09-05

Variant appearance in text: SCN1A: 1934_1935del; V645fs

PubMed Link: 30185235

Variant Present in the following documents:

• Main text
• 13041_2018_Article_392.pdf

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Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.

Scientific Reports

Yang, Xiaoxu X; Liu, Aijie A; Xu, Xiaojing X; Yang, Xiaoling X; Zeng, Qi Q; Ye, Adam Yongxin AY; Yu, Zhe Z; Wang, Sheng S; Huang, August Yue AY; Wu, Xiru X; Wu, Qixi Q; Wei, Liping L; Zhang, Yuehua Y

Publication Date: 2017-11-15

Variant appearance in text: SCN1A: 1934_1935delTG

PubMed Link: 29142202

Variant Present in the following documents:

• 41598_2017_15814_MOESM1_ESM.pdf

View BVdb publication page