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
Cribriform Morular Thyroid Carcinoma - Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case.
Dettmer MS et al.
Endocrine Pathology, 2023
Medulloblastoma and familial adenomatous polyposis: Good prognosis and good quality of life in the long-term?
Massimino M et al.
Pediatric Blood & Cancer, 2021
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
A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.
Truta B et al.
Familial Cancer, 2005
First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.
De Rosa M et al.
Human Mutation, 2004
Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.
Friedl W et al.
Gut, 2001
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