VWF c.5828G>A ;(p.R1943H)

Variant ID: 12-6120797-C-T

NM_000552.3(VWF):c.5828G>A;(p.R1943H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021

Variant appearance in text: VWF: R1943H
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s002.pdf
View BVdb publication page



Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Journal Of Clinical Medicine
Preisler, Barbara B; Pezeshkpoor, Behnaz B; Banchev, Atanas A; Fischer, Ronald R; Zieger, Barbara B; Scholz, Ute U; Rühl, Heiko H; Kemkes-Matthes, Bettina B; Schmitt, Ursula U; Redlich, Antje A; Unal, Sule S; Laws, Hans-Jürgen HJ; Olivieri, Martin M; Oldenburg, Johannes J; Pavlova, Anna A
Publication Date: 2021-01-18

Variant appearance in text: VWF: Arg1943His
PubMed Link: 33477601
Variant Present in the following documents:
  • jcm-10-00347.pdf
View BVdb publication page