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FBN1 c.3598G>A ;(p.E1200K)
Variant ID: 15-48777685-C-T
NM_000138.4(
FBN1
):c.3598G>A;(p.E1200K)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
bMSAF is a prognostic predictor for advanced hepatocellular carcinoma patients treated with immune checkpoint inhibitor camrelizumab and anti-angiogenic agent apatinib combination therapy.
Clinical And Translational Medicine
Xu, Gehan G; Cui, Liang L; Li, Jin J; Wang, Quanren Q; Li, Pansong P; Xia, Xuefeng X; Yi, Xin X; Guan, Quanlin Q; Xu, Jianming J
Publication Date: 2022-10
Variant appearance in text: FBN1: 3598G>A; E1200K
PubMed Link:
36245284
Variant Present in the following documents:
CTM2-12-e1086-s010.xlsx, sheet 4
View BVdb publication page
Translational Medicine: Towards Gene Therapy of Marfan Syndrome.
Journal Of Clinical Medicine
Kallenbach, Klaus K; Remes, Anca A; Müller, Oliver J OJ; Arif, Rawa R; Zaradzki, Marcin M; Wagner, Andreas H AH
Publication Date: 2022-07-06
Variant appearance in text: FBN1: 3598G>A; E1200K
PubMed Link:
35887698
Variant Present in the following documents:
jcm-11-03934.pdf
View BVdb publication page
Annuloaortic ectasia in a four-month-old male Newfoundland dog: long-term follow-up and immunofluorescent study.
The Veterinary Quarterly
Côté, Etienne E; Zhang, Rong-Mo RM; Kaiser, Nicole N; Reinhardt, Dieter P DP; Martin, Chelsea K CK
Publication Date: 2021-12
Variant appearance in text: FBN1: 3598G>A; E1200K
PubMed Link:
34607531
Variant Present in the following documents:
TVEQ_41_1961039.pdf
View BVdb publication page
A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.
Mammalian Genome : Official Journal Of The International Mammalian Genome Society
Ibeagha-Awemu, Eveline M EM; Kgwatalala, Patrick P; Ibeagha, Aloysius E AE; Zhao, Xin X
Publication Date: 2008-04
Variant appearance in text: FBN1: 3598G>A; E1200K
PubMed Link:
18350334
Variant Present in the following documents:
Main text
335_2008_Article_9101.pdf
View BVdb publication page