HR c.2479G>C ;(p.G827R)

Variant ID: 8-21978360-C-G

NM_005144.4(HR):c.2479G>C;(p.G827R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Transcriptome analysis reveals TMPRSS6 isoforms with distinct functionalities.

Journal Of Cellular And Molecular Medicine
Dion, Sébastien P SP; Béliveau, François F; Désilets, Antoine A; Ghinet, Mariana Gabriela MG; Leduc, Richard R
Publication Date: 2018-04

Variant appearance in text: HR: G827R
PubMed Link: 29441715
Variant Present in the following documents:
  • JCMM-22-2498.pdf
View BVdb publication page



Prognostic significance of SETBP1 mutations in myelodysplastic syndromes, chronic myelomonocytic leukemia, and chronic neutrophilic leukemia: A meta-analysis.

Plos One
Shou, Li-Hong LH; Cao, Dan D; Dong, Xiao-Hui XH; Fang, Qiu Q; Wu, Ying Y; Zhang, Yan Y; Fei, Ju-Ping JP; Xu, Bao-Lian BL
Publication Date: 2017

Variant appearance in text: HR: G827R
PubMed Link: 28158286
Variant Present in the following documents:
  • Main text
  • pone.0171608.pdf
View BVdb publication page