VWF c.154_156delinsTGA ;(p.S52*)

Variant ID: 12-6230404-GCT-TCA

NM_000552.3(VWF):c.154_156delinsTGA;(p.S52*)

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:

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

International Journal Of Molecular Sciences
Balestra, Dario D; Branchini, Alessio A
Publication Date: 2019-06-21

Variant appearance in text: VWF: S52X
PubMed Link: 31234407
Variant Present in the following documents:
  • Main text
  • ijms-20-03036.pdf
View BVdb publication page