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 › e_Cli-data
Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL.
Chong AS et al.
Human Mutation, 2020
A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.
Pang M et al.
Molecular Medicine Reports, 2018
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Papp J et al.
Familial Cancer, 2016
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.
Liao DX et al.
Familial Cancer, 2014
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