Associated Papers
A novel insertion/deletion in APC promotor 1B is associated with both gastric and colon polyposis.
Fann F et al.
Familial Cancer, 2025
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: mmc1.pdf
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
37745687 (PubMed )
Supplement: Table2.xlsx › TableS2
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.
Jelsig AM et al.
The Application of Clinical Genetics, 2021
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J et al.
American Journal of Human Genetics, 2016
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