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
Multiple splenic hamartomas and familial adenomatous polyposis: a case report and review of the literature.
Carlomagno N et al.
Journal of Medical Case Reports, 2015
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
Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online.
Scarano MI et al.
Human Mutation, 1999
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