F2 c.679G>A ;(p.V227M)

Variant ID: 11-46747528-G-A

NM_000506.3(F2):c.679G>A;(p.V227M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.

Oncotarget
Fang, Weiyuan W; Song, Peng P; Xie, Xinbao X; Wang, Jianshe J; Lu, Yi Y; Li, Gang G; Abuduxikuer, Kuerbanjiang K
Publication Date: 2017-10-13

Variant appearance in text: F2: 679G>A
PubMed Link: 29137425
Variant Present in the following documents:
  • Main text
  • oncotarget-08-84309.pdf
View BVdb publication page



A bifunctional geranyl and geranylgeranyl diphosphate synthase is involved in terpene oleoresin formation in Picea abies.

Plant Physiology
Schmidt, Axel A; Wächtler, Betty B; Temp, Ulrike U; Krekling, Trygve T; Séguin, Armand A; Gershenzon, Jonathan J
Publication Date: 2010-02

Variant appearance in text: F2: V227M
PubMed Link: 19939949
Variant Present in the following documents:
  • Main text
View BVdb publication page