VWF c.55_55+1insA ;(p.G19Efs*23)

Variant ID: 12-6232307-C-CT

NM_000552.3(VWF):c.55_55+1insA;(p.G19Efs*23)

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:

Alternative trafficking of Weibel-Palade body proteins in CRISPR/Cas9-engineered von Willebrand factor-deficient blood outgrowth endothelial cells.

Research And Practice In Thrombosis And Haemostasis
Schillemans, Maaike M; Kat, Marije M; Westeneng, Jurjen J; Gangaev, Anastasia A; Hofman, Menno M; Nota, Benjamin B; van Alphen, Floris P J FPJ; de Boer, Martin M; van den Biggelaar, Maartje M; Margadant, Coert C; Voorberg, Jan J; Bierings, Ruben R
Publication Date: 2019-10

Variant appearance in text: VWF: 55insA
PubMed Link: 31624792
Variant Present in the following documents:
  • Main text
  • RTH2-3-718.pdf
View BVdb publication page