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 › d_Exp-data
APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome.
Disciglio V et al.
Genes, 2021
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.
Schwarzová L et al.
Familial Cancer, 2013
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