VWF c.291T>C ;(p.F97=)

Variant ID: 12-6220064-A-G

NM_000552.3(VWF):c.291T>C;(p.F97=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.

Journal Of Molecular Biology
Tischer, Alexander A; Brehm, Maria A MA; Machha, Venkata R VR; Moon-Tasson, Laurie L; Benson, Linda M LM; Nelton, Katelynn J KJ; Leger, Rachel R RR; Obser, Tobias T; Martinez-Vargas, Marina M; Whitten, Steven T ST; Chen, Dong D; Pruthi, Rajiv K RK; Bergen, H Robert HR; Cruz, Miguel A MA; Schneppenheim, Reinhard R; Auton, Matthew M
Publication Date: 2020-01-17

Variant appearance in text: VWF: F97F
PubMed Link: 31628947
Variant Present in the following documents:
  • Main text
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