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EPCAM c.555+640T>C
Variant ID: 2-47604856-T-C
NM_002354.2(
EPCAM
):c.555+640T>C
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:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs114803590
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.
Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30
Variant appearance in text: rs114803590
PubMed Link:
33256598
Variant Present in the following documents:
12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
12864_2020_7222_MOESM2_ESM.xlsx, sheet 17
12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
12864_2020_7222_MOESM2_ESM.xlsx, sheet 25
View BVdb publication page