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EGF c.967_969delinsAGC ;(p.G323S)
Variant ID: 4-110880494-GGA-AGC
NM_001963.4(
EGF
):c.967_969delinsAGC;(p.G323S)
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:
Molecular modeling of LDLR aids interpretation of genomic variants.
Journal Of Molecular Medicine (Berlin, Germany)
Klee, Eric W EW; Zimmermann, Michael T MT
Publication Date: 2019-04
Variant appearance in text: EGF: G323S
PubMed Link:
30778614
Variant Present in the following documents:
109_2019_1755_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page
Ub-ProT reveals global length and composition of protein ubiquitylation in cells.
Nature Communications
Tsuchiya, Hikaru H; Burana, Daocharad D; Ohtake, Fumiaki F; Arai, Naoko N; Kaiho, Ai A; Komada, Masayuki M; Tanaka, Keiji K; Saeki, Yasushi Y
Publication Date: 2018-02-06
Variant appearance in text: EGF: G323S
PubMed Link:
29410401
Variant Present in the following documents:
Main text
41467_2018_Article_2869.pdf
View BVdb publication page