FBN1 c.3748G>T ;(p.D1250Y)

Variant ID: 15-48776105-C-A

NM_000138.4(FBN1):c.3748G>T;(p.D1250Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Orphanet Journal Of Rare Diseases
Campens, Laurence L; Callewaert, Bert B; MuiƱo Mosquera, Laura L; Renard, Marjolijn M; Symoens, Sofie S; De Paepe, Anne A; Coucke, Paul P; De Backer, Julie J
Publication Date: 2015-02-03

Variant appearance in text: FBN1: 3748G>T; Asp1250Tyr
PubMed Link: 25644172
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_221.pdf
View BVdb publication page