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F2 c.280A>G ;(p.R94G)
Variant ID: 11-46742354-A-G
NM_000506.3(
F2
):c.280A>G;(p.R94G)
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:
Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites.
Frontiers In Pediatrics
Zhao, Xuliang X; Li, Xu X; Sun, Weiwei W; Jia, Jian-An JA; Yu, Min M; Tian, Ruixia R
Publication Date: 2022
Variant appearance in text: F2: Arg94Gly
PubMed Link:
36440345
Variant Present in the following documents:
fped-10-1004485.pdf
View BVdb publication page
Genetic variants of major genes contributing to phosphate and calcium homeostasis and their association with serum parameters in pigs.
Journal Of Applied Genetics
Just, Franziska F; Reyer, Henry H; MurĂ¡ni, Eduard E; Ponsuksili, Siriluck S; Oster, Michael M; Wimmers, Klaus K
Publication Date: 2018-08
Variant appearance in text: F2: Arg94Gly
PubMed Link:
29931419
Variant Present in the following documents:
Main text
13353_2018_Article_449.pdf
View BVdb publication page