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
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Papp J et al.
Familial Cancer, 2016
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
Aceto G et al.
Human Mutation, 2005
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.
De Rosa M et al.
Human Mutation, 2004
Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.
Vandrovcová J et al.
Human Mutation, 2004
The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.
De Rosa M et al.
Human Mutation, 2003
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