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MSH2 c.215_216delinsAC ;(p.A72D)
Variant ID: 2-47635543-CA-AC
NM_000251.2(
MSH2
):c.215_216delinsAC;(p.A72D)
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:
Genome-wide mutational signatures revealed distinct developmental paths for human B cell lymphomas.
The Journal Of Experimental Medicine
Ye, Xiaofei X; Ren, Weicheng W; Liu, Dongbing D; Li, Xiaobo X; Li, Wei W; Wang, Xianhuo X; Meng, Fei-Long FL; Yeap, Leng-Siew LS; Hou, Yong Y; Zhu, Shida S; Casellas, Rafael R; Zhang, Huilai H; Wu, Kui K; Pan-Hammarström, Qiang Q
Publication Date: 2021-02-01
Variant appearance in text: MSH2: A72D
PubMed Link:
33136155
Variant Present in the following documents:
Main text
View BVdb publication page
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: MSH2: A72D
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page