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GC c.247del ;(p.C83Afs*44)
Variant ID: 4-72634032-CA-C
NM_000583.3(
GC
):c.247del;(p.C83Afs*44)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Technological Advances: CEBPA and FLT3 Internal Tandem Duplication Mutations Can be Reliably Detected by Next Generation Sequencing.
Genes
Akabari, Ratilal R; Qin, Dahui D; Hussaini, Mohammad M
Publication Date: 2022-04-01
Variant appearance in text: GC: 247del
PubMed Link:
35456436
Variant Present in the following documents:
genes-13-00630.pdf
View BVdb publication page
Protein phosphatase 2A inactivation induces microsatellite instability, neoantigen production and immune response.
Nature Communications
Yen, Yu-Ting YT; Chien, May M; Wu, Pei-Yi PY; Ho, Chi-Chang CC; Ho, Chun-Te CT; Huang, Kevin Chih-Yang KC; Chiang, Shu-Fen SF; Chao, K S Clifford KSC; Chen, William Tzu-Liang WT; Hung, Shih-Chieh SC
Publication Date: 2021-12-15
Variant appearance in text: GC: 247del
PubMed Link:
34911954
Variant Present in the following documents:
41467_2021_27620_MOESM6_ESM.xlsx, sheet 17
View BVdb publication page
Protein phosphatase 2A inactivation induces microsatellite instability, neoantigen production and immune response.
Nature Communications
Yen, Yu-Ting YT; Chien, May M; Wu, Pei-Yi PY; Ho, Chi-Chang CC; Ho, Chun-Te CT; Huang, Kevin Chih-Yang KC; Chiang, Shu-Fen SF; Chao, K S Clifford KSC; Chen, William Tzu-Liang WT; Hung, Shih-Chieh SC
Publication Date: 2021-12-15
Variant appearance in text: GC: 247del
PubMed Link:
34911954
Variant Present in the following documents:
41467_2021_27620_MOESM6_ESM.xlsx, sheet 17
View BVdb publication page
Haplotype-resolved de novo assembly of the Vero cell line genome.
Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20
Variant appearance in text: GC: 247delT
PubMed Link:
34417462
Variant Present in the following documents:
41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page