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VWF c.4165G>C ;(p.E1389Q)
Variant ID: 12-6128419-C-G
NM_000552.3(
VWF
):c.4165G>C;(p.E1389Q)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.
Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021
Variant appearance in text: VWF: 4165G>C
PubMed Link:
34887858
Variant Present in the following documents:
Table_3.xlsx, sheet 1
View BVdb publication page
Crystal structure of ADAMTS13 CUB domains reveals their role in global latency.
Science Advances
Kim, H J HJ; Xu, Y Y; Petri, A A; Vanhoorelbeke, K K; Crawley, J T B JTB; Emsley, J J
Publication Date: 2021-04
Variant appearance in text: VWF: E1389Q
PubMed Link:
33863735
Variant Present in the following documents:
Main text
abg4403.pdf
View BVdb publication page
Crystal structure of ADAMTS13 CUB domains reveals their role in global latency.
Science Advances
Kim, H J HJ; Xu, Y Y; Petri, A A; Vanhoorelbeke, K K; Crawley, J T B JTB; Emsley, J J
Publication Date: 2021-04
Variant appearance in text: VWF: E1389Q
PubMed Link:
33863735
Variant Present in the following documents:
Main text
abg4403.pdf
View BVdb publication page
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.
Journal Of The American Society Of Nephrology : Jasn
Bu, Fengxiao F; Maga, Tara T; Meyer, Nicole C NC; Wang, Kai K; Thomas, Christie P CP; Nester, Carla M CM; Smith, Richard J H RJ
Publication Date: 2014-01
Variant appearance in text: VWF: 4165G>C; E1389Q
PubMed Link:
24029428
Variant Present in the following documents:
Main text
View BVdb publication page