FBN1 c.7868dup ;(p.H2623Qfs*18)

Variant ID: 15-48707915-G-GT

NM_000138.4(FBN1):c.7868dup;(p.H2623Qfs*18)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: FBN1: 7868dupA; His2623fs
PubMed Link: 27611364
Variant Present in the following documents:
  • Main text
  • srep33002.pdf
View BVdb publication page