VWF c.4181C>T ;(p.S1394F)

Variant ID: 12-6128403-G-A

NM_000552.3(VWF):c.4181C>T;(p.S1394F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: VWF: S1394F
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Larsen, D M DM; Haberichter, S L SL; Gill, J C JC; Shapiro, A D AD; Flood, V H VH
Publication Date: 2013-07

Variant appearance in text: VWF: S1394F
PubMed Link: 23496210
Variant Present in the following documents:
  • Main text
View BVdb publication page