F8 c.4309G>A ;(p.A1437T)

Variant ID: X-154157756-C-T

NM_000132.3(F8):c.4309G>A;(p.A1437T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances
Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F
Publication Date: 2022-07-12

Variant appearance in text: FVIII: A1437T
PubMed Link: 35452508
Variant Present in the following documents:
  • advancesADV2022007216.pdf
View BVdb publication page



Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.

Biophysical Journal
Tischer, Alexander A; Madde, Pranathi P; Moon-Tasson, Laurie L; Auton, Matthew M
Publication Date: 2014-09-02

Variant appearance in text: FVIII: A1437T
PubMed Link: 25185554
Variant Present in the following documents:
  • Main text
View BVdb publication page