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.




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