Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: FBN1: G2147D

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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: 6440G>A; Gly2147Asp

PubMed Link: 31827250

Variant Present in the following documents:

• Main text
• 10038_2019_Article_698.pdf

View BVdb publication page