F8 c.143+1567A>G

Variant ID: X-154249118-T-C

NM_000132.3(F8):c.143+1567A>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: 143+1567A>G
PubMed Link: 35754842
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.

American Journal Of Human Genetics
Jourdy, Yohann Y; Janin, Alexandre A; Fretigny, Mathilde M; Lienhart, Anne A; NĂ©grier, Claude C; Bozon, Dominique D; Vinciguerra, Christine C
Publication Date: 2018-02-01

Variant appearance in text: F8: 143+1567A>G
PubMed Link: 29357978
Variant Present in the following documents:
  • Main text
View BVdb publication page