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APC c.6743A>G ;(p.K2248R)
Variant ID: 5-112178034-A-G
NM_000038.5(
APC
):c.6743A>G;(p.K2248R)
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:
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.
European Journal Of Human Genetics : Ejhg
Ciavarella, Michele M; Miccoli, Sara S; Prossomariti, Anna A; Pippucci, Tommaso T; Bonora, Elena E; Buscherini, Francesco F; Palombo, Flavia F; Zuntini, Roberta R; Balbi, Tiziana T; Ceccarelli, Claudio C; Bazzoli, Franco F; Ricciardiello, Luigi L; Turchetti, Daniela D; Piazzi, Giulia G
Publication Date: 2018-03
Variant appearance in text: APC: 6743A>G
PubMed Link:
29367705
Variant Present in the following documents:
Main text
View BVdb publication page