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APC c.565_566inv ;(p.L189K)
Variant ID: 5-112116520-TT-AA
NM_000038.5(
APC
):c.565_566inv;(p.L189K)
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:
Characterization of the role of COP9 signalosome in regulating cullin E3 ubiquitin ligase activity.
Molecular Biology Of The Cell
Choo, Yin Yin YY; Boh, Boon Kim BK; Lou, Jessica Jie Wei JJ; Eng, Jolane J; Leck, Yee Chin YC; Anders, Benjamin B; Smith, Peter G PG; Hagen, Thilo T
Publication Date: 2011-12
Variant appearance in text: APC: L189K
PubMed Link:
22013077
Variant Present in the following documents:
Main text
View BVdb publication page