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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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