VWF c.3424_3425delinsGC ;(p.C1142A)

Variant ID: 12-6132019-CA-GC

NM_000552.3(VWF):c.3424_3425delinsGC;(p.C1142A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Structural mechanism of VWF D'D3 dimer formation.

Cell Discovery
Shu, Zimei Z; Zeng, Jianwei J; Xia, Li L; Cai, Haiyan H; Zhou, Aiwu A
Publication Date: 2022-02-15

Variant appearance in text: VWF: C1142A
PubMed Link: 35169124
Variant Present in the following documents:
  • 41421_2022_378_MOESM1_ESM.pdf
  • 41421_2022_Article_378.pdf
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Molecular determinants of the factor VIII/von Willebrand factor complex revealed by BIVV001 cryo-electron microscopy.

Blood
Fuller, James R JR; Knockenhauer, Kevin E KE; Leksa, Nina C NC; Peters, Robert T RT; Batchelor, Joseph D JD
Publication Date: 2021-05-27

Variant appearance in text: VWF: C1142A
PubMed Link: 33569592
Variant Present in the following documents:
  • Main text
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BIVV001, a new class of factor VIII replacement for hemophilia A that is independent of von Willebrand factor in primates and mice.

Blood
Seth Chhabra, Ekta E; Liu, Tongyao T; Kulman, John J; Patarroyo-White, Susannah S; Yang, Buyue B; Lu, Qi Q; Drager, Douglas D; Moore, Nancy N; Liu, Jiayun J; Holthaus, Amy M AM; Sommer, Jurg M JM; Ismail, Ayman A; Rabinovich, Deana D; Liu, Zhan Z; van der Flier, Arjan A; Goodman, Allison A; Furcht, Chris C; Tie, Mark M; Carlage, Tyler T; Mauldin, Randy R; Dobrowsky, Terrence M TM; Liu, Zhiqian Z; Mercury, Oblaise O; Zhu, Lily L; Mei, Baisong B; Schellenberger, Volker V; Jiang, Haiyan H; Pierce, Glenn F GF; Salas, Joe J; Peters, Robert R
Publication Date: 2020-04-23

Variant appearance in text: VWF: C1142A
PubMed Link: 32078672
Variant Present in the following documents:
  • Main text
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The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.

Blood
Dong, Xianchi X; Leksa, Nina C NC; Chhabra, Ekta Seth ES; Arndt, Joseph W JW; Lu, Qi Q; Knockenhauer, Kevin E KE; Peters, Robert T RT; Springer, Timothy A TA
Publication Date: 2019-04-04

Variant appearance in text: VWF: C1142A
PubMed Link: 30642920
Variant Present in the following documents:
  • Main text
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Two Cys residues essential for von Willebrand factor multimer assembly in the Golgi.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Purvis, Angie R AR; Gross, Julia J; Dang, Luke T LT; Huang, Ren-Huai RH; Kapadia, Milan M; Townsend, R Reid RR; Sadler, J Evan JE
Publication Date: 2007-10-02

Variant appearance in text: VWF: C1142A
PubMed Link: 17895385
Variant Present in the following documents:
  • Main text
View BVdb publication page