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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.
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: 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