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F8 c.1443G>A ;(p.L481=)
Variant ID: X-154194245-C-T
NM_000132.3(
F8
):c.1443G>A;(p.L481=)
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:
The Genomic Landscape of Actinic Keratosis.
The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07
Variant appearance in text: F8: 1443G>A
PubMed Link:
33482222
Variant Present in the following documents:
mmc1.xlsx, sheet 4
View BVdb publication page
Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.
Mediterranean Journal Of Hematology And Infectious Diseases
Zahari, Maimiza M; Sulaiman, Siti Aishah SA; Othman, Zulhabri Z; Ayob, Yasmin Y; Karim, Faraizah Abd FA; Jamal, Rahman R
Publication Date: 2018
Variant appearance in text: F8: 1443G>A; L481L
PubMed Link:
30210749
Variant Present in the following documents:
Main text
mjhid-10-1-e2018056.pdf
View BVdb publication page