Publications:

Identification of novel FBN1 variations implicated in congenital scoliosis.

Journal Of Human Genetics

Lin, Mao M; Zhao, Sen S; Liu, Gang G; Huang, Yingzhao Y; Yu, Chenxi C; Zhao, Yanxue Y; Wang, Lianlei L; Zhang, Yuanqiang Y; Yan, Zihui Z; Wang, Shengru S; Liu, Sen S; Liu, Jiaqi J; Ye, Yongyu Y; Chen, Yaping Y; Yang, Xu X; Tong, Bingdu B; Wang, Zheng Z; Yang, Xinzhuang X; Niu, Yuchen Y; Li, Xiaoxin X; Wang, Yipeng Y; Su, Jianzhong J; Yuan, Jian J; Zhao, Hengqiang H; Zhang, Shuyang S; Qiu, Guixing G; , ; Ikegawa, Shiro S; Zhang, Jianguo J; Wu, Zhihong Z; Wu, Nan N

Publication Date: 2020-03

Variant appearance in text: FBN1: 1456G>T; Gly486Trp

PubMed Link: 31827250

Variant Present in the following documents:

• Main text
• 10038_2019_Article_698.pdf

View BVdb publication page

Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Scientific Reports

Fang, Miaoxian M; Yu, Changjiang C; Chen, Siyao S; Xiong, Weiping W; Li, Xin X; Zeng, Rong R; Zhuang, Jian J; Fan, Ruixin R

Publication Date: 2017-08-30

Variant appearance in text: FBN1: 1456G>T

PubMed Link: 28855619

Variant Present in the following documents:

• Main text
• 41598_2017_Article_9785.pdf

View BVdb publication page