VWF c.4549_4550delinsGC ;(p.S1517A)

Variant ID: 12-6128034-CT-GC

NM_000552.3(VWF):c.4549_4550delinsGC;(p.S1517A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


In vitro phosphorylation of von Willebrand factor by FAM20c enhances its ability to support platelet adhesion.

Journal Of Thrombosis And Haemostasis : Jth
Da, Qi Q; Han, Hyojeong H; Valladolid, Christian C; Fernández, María M; Khatlani, Tanvir T; Pradhan, Subhashree S; Nolasco, Jennifer J; Matsunami, Risë K RK; Engler, David A DA; Cruz, Miguel A MA; Vijayan, K Vinod KV
Publication Date: 2019-06

Variant appearance in text: VWF: S1517A
PubMed Link: 30864273
Variant Present in the following documents:
  • Main text
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