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.




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