Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: Y216F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Jin, Zi-Bing ZB; Wu, Jinyu J; Huang, Xiu-Feng XF; Feng, Chun-Yun CY; Cai, Xue-Bi XB; Mao, Jian-Yang JY; Xiang, Lue L; Wu, Kun-Chao KC; Xiao, Xueshan X; Kloss, Bethany A BA; Li, Zhongshan Z; Liu, Zhenwei Z; Huang, Shenghai S; Shen, Meixiao M; Cheng, Fei-Fei FF; Cheng, Xue-Wen XW; Zheng, Zhi-Li ZL; Chen, Xuejiao X; Zhuang, Wenjuan W; Zhang, Qingjiong Q; Young, Terri L TL; Xie, Ting T; Lu, Fan F; Qu, Jia J

Publication Date: 2017-04-18

Variant appearance in text: GLA: 647A>T; Y216F

PubMed Link: 28373534

Variant Present in the following documents:

• Main text

View BVdb publication page