Bibliome.ai browser hg19
Search
About
Stats
FAQ
F8 c.2409T>C ;(p.N803=)
Variant ID: X-154159656-A-G
NM_000132.3(
F8
):c.2409T>C;(p.N803=)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.
Diagnostic Pathology
Elmahmoudi, Hejer H; Khodjet-el-khil, Houssein H; Wigren, Edvard E; Jlizi, Asma A; Zahra, Kaouther K; Pellechia, Dorothé D; Vinciguerra, Christine C; Meddeb, Balkis B; Elggaaied, Amel Ben Ammar AB; Gouider, Emna E
Publication Date: 2012-08-10
Variant appearance in text: FVIII: 2409T>C
PubMed Link:
22883072
Variant Present in the following documents:
Main text
1746-1596-7-93.pdf
View BVdb publication page