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F8 c.1443+602A>G
Variant ID: X-154193643-T-C
NM_000132.3(
F8
):c.1443+602A>G
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:
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022
Variant appearance in text: F8: 1443+602A>G
PubMed Link:
35754842
Variant Present in the following documents:
DataSheet1.xlsx, sheet 1
View BVdb publication page
Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.
Research And Practice In Thrombosis And Haemostasis
Inaba, Hiroshi H; Shinozawa, Keiko K; Amano, Kagehiro K; Fukutake, Katsuyuki K
Publication Date: 2017-10
Variant appearance in text: F8: 1443+602A>G
PubMed Link:
30046696
Variant Present in the following documents:
Main text
RTH2-1-264.pdf
View BVdb publication page