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EGF c.520_521delinsGC ;(p.W174A)
Variant ID: 4-110865008-TG-GC
NM_001963.4(
EGF
):c.520_521delinsGC;(p.W174A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Eps15 and Dap160 control synaptic vesicle membrane retrieval and synapse development.
The Journal Of Cell Biology
Koh, Tong-Wey TW; Korolchuk, Viktor I VI; Wairkar, Yogesh P YP; Jiao, Wei W; Evergren, Emma E; Pan, Hongling H; Zhou, Yi Y; Venken, Koen J T KJ; Shupliakov, Oleg O; Robinson, Iain M IM; O'Kane, Cahir J CJ; Bellen, Hugo J HJ
Publication Date: 2007-07-16
Variant appearance in text: EGF: W174A
PubMed Link:
17620409
Variant Present in the following documents:
Main text
jcb1780309.pdf
View BVdb publication page