Publications:

Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: COL3A1: A1259V

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1
• emm2017142x5.xls, sheet 1

View BVdb publication page

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Scientific Reports

Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z

Publication Date: 2016-09-09

Variant appearance in text: COL3A1: 3776C>T; Ala1259Val

PubMed Link: 27611364

Variant Present in the following documents:

• Main text
• srep33002.pdf

View BVdb publication page