FLNB c.4724C>T ;(p.T1575M)

Variant ID: 3-58121758-C-T

NM_001457.3(FLNB):c.4724C>T;(p.T1575M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Computational And Structural Biotechnology Journal
Zu, Bailing B; Zhang, Xiaoqing X; Xu, Yunlan Y; Xiang, Ying Y; Wang, Zhigang Z; Cai, Haiqing H; Wang, Bo B; You, Guoling G; Fu, Qihua Q
Publication Date: 2021

Variant appearance in text: rs776237096
PubMed Link: 34194672
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.

Journal Of Medical Genetics
Jiang, Heng H; Liang, Shulun S; He, Kai K; Hu, Jinghua J; Xu, Enjie E; Lin, Tao T; Meng, Yichen Y; Zhao, Jianquan J; Ma, Jun J; Gao, Rui R; Wang, Ce C; Yang, Fu F; Zhou, Xuhui X
Publication Date: 2020-06

Variant appearance in text: FLNB: T1575M
PubMed Link: 32381728
Variant Present in the following documents:
  • Main text
  • jmedgenet-2019-106411.pdf
View BVdb publication page