FBN1 c.2613A>T ;(p.L871F)

Variant ID: 15-48787384-T-A

NM_000138.4(FBN1):c.2613A>T;(p.L871F)

This variant was identified in 3 publications

View GRCh38 version.




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: L871F
PubMed Link: 34422331
Variant Present in the following documents:
  • Main text
  • jtd-13-07-4008.pdf
  • jtd-13-07-4008-supplementary.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: FBN1: L871F
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: FBN1: 2613A>T
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page