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VWF c.4160G>T ;(p.S1387I)
Variant ID: 12-6128424-C-A
NM_000552.3(
VWF
):c.4160G>T;(p.S1387I)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: S1387I
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Translational medicine advances in von Willebrand disease.
Journal Of Thrombosis And Haemostasis : Jth
Lillicrap, D D
Publication Date: 2013-06
Variant appearance in text: VWF: S1387I
PubMed Link:
23809112
Variant Present in the following documents:
Main text
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: S1387I
PubMed Link:
23496210
Variant Present in the following documents:
Main text
View BVdb publication page
The molecular characterization of von Willebrand disease: good in parts.
British Journal Of Haematology
James, P D PD; Lillicrap, D D
Publication Date: 2013-04
Variant appearance in text: VWF: S1387I
PubMed Link:
23406206
Variant Present in the following documents:
Main text
View BVdb publication page
Critical von Willebrand factor A1 domain residues influence type VI collagen binding.
Journal Of Thrombosis And Haemostasis : Jth
Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Bellissimo, D B DB; Friedman, K D KD; Haberichter, S L SL; Lentz, S R SR; Montgomery, R R RR
Publication Date: 2012-07
Variant appearance in text: VWF: S1387I
PubMed Link:
22507569
Variant Present in the following documents:
Main text
View BVdb publication page