VWF c.2290_2291delinsGC ;(p.S764A)

Variant ID: 12-6153608-CT-GC

NM_000552.3(VWF):c.2290_2291delinsGC;(p.S764A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Distinct roles of Ser-764 and Lys-773 at the N terminus of von Willebrand factor in complex assembly with coagulation factor VIII.

The Journal Of Biological Chemistry
Castro-Núñez, Lydia L; Bloem, Esther E; Boon-Spijker, Mariëtte G MG; van der Zwaan, Carmen C; van den Biggelaar, Maartje M; Mertens, Koen K; Meijer, Alexander B AB
Publication Date: 2013-01-04

Variant appearance in text: VWF: S764A
PubMed Link: 23168412
Variant Present in the following documents:
  • Main text
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