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EGR1 c.829del ;(p.L277Wfs*10)
Variant ID: 5-137802965-GC-G
NM_001964.2(
EGR1
):c.829del;(p.L277Wfs*10)
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:
Variant discovery in the sheep milk transcriptome using RNA sequencing.
Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15
Variant appearance in text: 225: 829delC
PubMed Link:
28202015
Variant Present in the following documents:
12864_2017_3581_MOESM1_ESM.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: 828del
PubMed Link:
25519458
Variant Present in the following documents:
Main text
13023_2014_Article_163.pdf
View BVdb publication page