FBN1 c.7567A>C ;(p.I2523L)

Variant ID: 15-48714152-T-G

NM_000138.4(FBN1):c.7567A>C;(p.I2523L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 7567A>C; Ile2523Leu
PubMed Link: 28855619
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_9785.pdf
View BVdb publication page