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 › d_Exp-data
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients.
Lee JK et al.
Cancer Genetics, 2022
Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.
Ricci MT et al.
Tumori, 2019
Identification of novel point mutations in splicing sites integrating whole-exome and RNA-seq data in myeloproliferative diseases.
Spinelli R et al.
Molecular Genetics & Genomic Medicine, 2013
[Detection of APC gene germline mutation in Chinese familial adenomatous polyposis by direct sequencing in combination with multiplex ligation-dependent probe amplification].
Jin P et al.
Zhonghua Yi Xue Za Zhi, 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
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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