FBN1 c.7502_7503insA ;(p.N2502*)

Variant ID: 15-48714216-A-AT

NM_000138.4(FBN1):c.7502_7503insA;(p.N2502*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Krych, Michalina M; Ponińska, Joanna J; Bilińska, Zofia T ZT; Płoski, Rafał R; Biernacka, Elżbieta K EK
Publication Date: 2019-05

Variant appearance in text: FBN1: 7502_7503insA
PubMed Link: 30672637
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Journal Of Translational Medicine
Poninska, J K JK; Bilinska, Z T ZT; Franaszczyk, M M; Michalak, E E; Rydzanicz, M M; Szpakowski, E E; Pollak, A A; Milanowska, B B; Truszkowska, G G; Chmielewski, P P; Sioma, A A; Janaszek-Sitkowska, H H; Klisiewicz, A A; Michalowska, I I; Makowiecka-Ciesla, M M; Kolsut, P P; Stawinski, P P; Foss-Nieradko, B B; Szperl, M M; Grzybowski, J J; Hoffman, P P; Januszewicz, A A; Kusmierczyk, M M; Ploski, R R
Publication Date: 2016-05-04

Variant appearance in text: FBN1: 7502_7503insA; N2502X
PubMed Link: 27146836
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_870.pdf
View BVdb publication page