VWF c.6917T>G ;(p.L2306R)

Variant ID: 12-6094270-A-C

NM_000552.3(VWF):c.6917T>G;(p.L2306R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Quantitative 3D microscopy highlights altered von Willebrand factor α-granule storage in patients with von Willebrand disease with distinct pathogenic mechanisms.

Research And Practice In Thrombosis And Haemostasis
Swinkels, Maurice M; Atiq, Ferdows F; Bürgisser, Petra E PE; Slotman, Johan A JA; Houtsmuller, Adriaan B AB; de Heus, Cilia C; Klumperman, Judith J; Leebeek, Frank W G FWG; Voorberg, Jan J; Jansen, Arend Jan Gerard AJG; Bierings, Ruben R
Publication Date: 2021-08

Variant appearance in text: VWF: L2306R
PubMed Link: 34532631
Variant Present in the following documents:
  • Main text
  • RTH2-5-e12595.pdf
View BVdb publication page