FBN1 c.6548A>G ;(p.N2183S)

Variant ID: 15-48726859-T-C

NM_000138.4(FBN1):c.6548A>G;(p.N2183S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The molecular genetics of Marfan syndrome and related disorders.

Journal Of Medical Genetics
Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-BĂ©roud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M
Publication Date: 2006-10

Variant appearance in text: FBN1: N2183S
PubMed Link: 16571647
Variant Present in the following documents:
  • Main text
View BVdb publication page