VWF c.8402C>A ;(p.A2801D)

Variant ID: 12-6058221-G-T

NM_000552.3(VWF):c.8402C>A;(p.A2801D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Highly reinforced structure of a C-terminal dimerization domain in von Willebrand factor.

Blood
Zhou, Yan-Feng YF; Springer, Timothy A TA
Publication Date: 2014-03-20

Variant appearance in text: VWF: A2801D
PubMed Link: 24394662
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Berber, Ergül E
Publication Date: 2012-12

Variant appearance in text: VWF: A2801D
PubMed Link: 24385719
Variant Present in the following documents:
  • TJH-29-313.pdf
View BVdb publication page



Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.

Plos One
Dong, Jing J; Zhao, Xiaojuan X; Shi, Sensen S; Ma, Zhenni Z; Liu, Meng M; Wu, Qingyu Q; Ruan, Changgeng C; Dong, Ningzheng N
Publication Date: 2012

Variant appearance in text: VWF: A2801D
PubMed Link: 22479377
Variant Present in the following documents:
  • pone.0033263.pdf
View BVdb publication page