VWF c.4807_4808delinsGC ;(p.L1603A)

Variant ID: 12-6127776-AG-GC

NM_000552.3(VWF):c.4807_4808delinsGC;(p.L1603A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calcium modulates force sensing by the von Willebrand factor A2 domain.

Nature Communications
Jakobi, Arjen J AJ; Mashaghi, Alireza A; Tans, Sander J SJ; Huizinga, Eric G EG
Publication Date: 2011-07-12

Variant appearance in text: VWF: L1603A
PubMed Link: 21750539
Variant Present in the following documents:
  • Main text
  • ncomms1385.pdf
View BVdb publication page



Mechanism of von Willebrand factor scissile bond cleavage by a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13).

Proceedings Of The National Academy Of Sciences Of The United States Of America
Xiang, Yaozu Y; de Groot, Rens R; Crawley, James T B JT; Lane, David A DA
Publication Date: 2011-07-12

Variant appearance in text: VWF: L1603A
PubMed Link: 21705658
Variant Present in the following documents:
  • Main text
View BVdb publication page