VWF c.719_724del ;(p.L240_D242delinsH)

Variant ID: 12-6184651-TCCACCA-T

NM_000552.3(VWF):c.719_724del;(p.L240_D242delinsH)

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:

Shrinking Weibel-Palade bodies prevents high platelet recruitment in assays using thrombotic thrombocytopenic purpura plasma.

Research And Practice In Thrombosis And Haemostasis
Patella, Francesca F; Vendramin, Chiara C; Charles, Oscar O; Scully, Marie A MA; Cutler, Daniel F DF
Publication Date: 2021-12

Variant appearance in text: VWF: 719_724del
PubMed Link: 34934893
Variant Present in the following documents:
  • Main text
  • RTH2-5-e12626.pdf
View BVdb publication page