VWF c.7615G>T ;(p.E2539*)

Variant ID: 12-6078491-C-A

NM_000552.3(VWF):c.7615G>T;(p.E2539*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

Plos One
Casonato, Alessandra A; Cattini, Maria Grazia MG; Daidone, Viviana V; Pontara, Elena E; Bertomoro, Antonella A; Prandoni, Paolo P
Publication Date: 2016

Variant appearance in text: VWF: E2539*
PubMed Link: 27532107
Variant Present in the following documents:
  • Main text
  • pone.0161310.pdf
View BVdb publication page