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.




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