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FBN1 c.5778del ;(p.N1926Kfs*4)
Variant ID: 15-48738913-CA-C
NM_000138.4(
FBN1
):c.5778del;(p.N1926Kfs*4)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.
Journal Of Thoracic Disease
Chen, Zhao-Ran ZR; Bao, Ming-Hui MH; Wang, Xing-Yu XY; Yang, Yan-Min YM; Huang, Bi B; Han, Zhong-Li ZL; Cai, Jun J; Fan, Xiao-Han XH
Publication Date: 2021-07
Variant appearance in text: FBN1: 5778delT; N1926fs
PubMed Link:
34422331
Variant Present in the following documents:
Main text
jtd-13-07-4008-supplementary.pdf
jtd-13-07-4008.pdf
View BVdb publication page