FBN1 c.8251_8252delinsTA ;(p.V2751*)

Variant ID: 15-48703551-AC-TA

NM_000138.4(FBN1):c.8251_8252delinsTA;(p.V2751*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics
Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U
Publication Date: 2002-08

Variant appearance in text: FBN1: V2751X
PubMed Link: 12068374
Variant Present in the following documents:
  • Main text
View BVdb publication page