Associated Papers
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
39357517 (PubMed )
Supplement: mmc2.xlsx › c_Pred-data
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Papp J et al.
Familial Cancer, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.
Grodecká L et al.
Plos One, 2014
24586880 (PubMed )
Supplement: pone.0089570.s004.xlsx › exon_border_not_preserved
An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening.
Palmirotta R et al.
Human Mutation, 2012
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
Minde DP et al.
Molecular Cancer, 2011
21859464 (PubMed )
Supplement: 1476-4598-10-101-S1.DOC
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.
Tao H et al.
Bmc Research Notes, 2010
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
Kaufmann A et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Pre-mRNA splicing aberrations and cancer.
Pettigrew CA et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis.
Murphy SJ et al.
Digestive Diseases and Sciences, 2007
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Aretz S et al.
Human Mutation, 2004
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