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F8 c.2946T>G ;(p.N982K)
Variant ID: X-154159119-A-C
NM_000132.3(
F8
):c.2946T>G;(p.N982K)
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:
Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.
Plos One
Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K
Publication Date: 2014
Variant appearance in text: FVIII: Asn982Lys
PubMed Link:
24845853
Variant Present in the following documents:
Main text
pone.0097337.pdf
View BVdb publication page