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VWF c.358_360delinsTGT ;(p.L120C)
Variant ID: 12-6219712-TAG-ACA
NM_000552.3(
VWF
):c.358_360delinsTGT;(p.L120C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Generation of vascularized brain organoids to study neurovascular interactions.
Elife
Sun, Xin-Yao XY; Ju, Xiang-Chun XC; Li, Yang Y; Zeng, Peng-Ming PM; Wu, Jian J; Zhou, Ying-Ying YY; Shen, Li-Bing LB; Dong, Jian J; Chen, Yue-Jun YJ; Luo, Zhen-Ge ZG
Publication Date: 2022-05-04
Variant appearance in text: VWF: L120C
PubMed Link:
35506651
Variant Present in the following documents:
Main text
elife-76707.pdf
View BVdb publication page
Porphyromonas gingivalis fimbrial protein Mfa5 contains a von Willebrand factor domain and an intramolecular isopeptide.
Communications Biology
Heidler, Thomas V TV; Ernits, Karin K; Ziolkowska, Agnieszka A; Claesson, Rolf R; Persson, Karina K
Publication Date: 2021-01-25
Variant appearance in text: VWF: L120C
PubMed Link:
33495563
Variant Present in the following documents:
Main text
42003_2020_Article_1621.pdf
View BVdb publication page