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APC c.1408+729A>G
Variant ID: 5-112158417-A-G
NM_000038.5(
APC
):c.1408+729A>G
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:
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022
Variant appearance in text: APC: 1408+729A>G
PubMed Link:
35754842
Variant Present in the following documents:
DataSheet1.xlsx, sheet 1
View BVdb publication page
Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.
Oncotarget
Nieminen, Taina T TT; Pavicic, Walter W; Porkka, Noora N; Kankainen, Matti M; Järvinen, Heikki J HJ; Lepistö, Anna A; Peltomäki, Päivi P
Publication Date: 2016-10-25
Variant appearance in text: APC: 1408+729A>G
PubMed Link:
27683109
Variant Present in the following documents:
Main text
oncotarget-07-70685.pdf
View BVdb publication page