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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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