Publications:

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 5003C>G; Pro1668Arg

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals.

Cell Research

Huang, August Y AY; Xu, Xiaojing X; Ye, Adam Y AY; Wu, Qixi Q; Yan, Linlin L; Zhao, Boxun B; Yang, Xiaoxu X; He, Yao Y; Wang, Sheng S; Zhang, Zheng Z; Gu, Bowen B; Zhao, Han-Qing HQ; Wang, Meng M; Gao, Hua H; Gao, Ge G; Zhang, Zhichao Z; Yang, Xiaoling X; Wu, Xiru X; Zhang, Yuehua Y; Wei, Liping L

Publication Date: 2014-11

Variant appearance in text:

PubMed Link: 25312340

Variant Present in the following documents:

• Main text
• cr2014131a.pdf

View BVdb publication page