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VWF c.865_866inv ;(p.S289L)
Variant ID: 12-6184509-CT-AG
NM_000552.3(
VWF
):c.865_866inv;(p.S289L)
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:
Cross-reacting Material-positive Hemophilia A Diagnosed in a Patient with a Spontaneous Thigh Hemorrhage.
Internal Medicine (Tokyo, Japan)
Saito, Tatsuya T; Mukae, Jyunichi J; Nakamura, Yosuke Y; Inaba, Hiroshi H; Nogami, Keiji K; Koyama, Takatoshi T; Fukutake, Katsuyuki K; Yamamoto, Koh K
Publication Date: 2017
Variant appearance in text: VWF: Ser289Leu
PubMed Link:
28674365
Variant Present in the following documents:
Main text
1349-7235-56-1719.pdf
View BVdb publication page
Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.
Plos One
Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K
Publication Date: 2014
Variant appearance in text: VWF: Ser289Leu
PubMed Link:
24845853
Variant Present in the following documents:
Main text
pone.0097337.pdf
View BVdb publication page