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VWF c.4508T>G ;(p.L1503R)
Variant ID: 12-6128076-A-C
NM_000552.3(
VWF
):c.4508T>G;(p.L1503R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
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Publications:
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: L1503R
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: L1503R
PubMed Link:
22479377
Variant Present in the following documents:
Main text
pone.0033263.pdf
View BVdb publication page
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10
Variant appearance in text: VWF: L1503R
PubMed Link:
22431572
Variant Present in the following documents:
Main text
View BVdb publication page