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.




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