Associated Papers
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome.
Antohi C et al.
Diagnostics (basel, Switzerland), 2021
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3'-end.
Disciglio V et al.
Journal of Medical Genetics, 2020
31591141 (PubMed )
Supplement: jmedgenet-2019-106299supp001.pdf
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