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EGR1 c.664dup ;(p.S222Kfs*72)
Variant ID: 5-137802799-C-CA
NM_001964.2(
EGR1
):c.664dup;(p.S222Kfs*72)
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:
Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.
Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022
Variant appearance in text: 225: 662dupA
PubMed Link:
36582804
Variant Present in the following documents:
Table_5.xlsx, sheet 1
View BVdb publication page
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
Orphanet Journal Of Rare Diseases
Benusiglio, Patrick R PR; Giraud, Sophie S; Deveaux, Sophie S; Méjean, Arnaud A; Correas, Jean-Michel JM; Joly, Dominique D; Timsit, Marc-Olivier MO; Ferlicot, Sophie S; Verkarre, Virginie V; Abadie, Caroline C; Chauveau, Dominique D; Leroux, Dominique D; Avril, Marie-Françoise MF; Cordier, Jean-François JF; Richard, Stéphane S; ,
Publication Date: 2014-10-29
Variant appearance in text: 225: 663dup
PubMed Link:
25519458
Variant Present in the following documents:
Main text
13023_2014_Article_163.pdf
View BVdb publication page