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 germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.
Kerr SE et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Reappraisal of KIT mutation in adenoid cystic carcinomas of the salivary gland.
Sung JY et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2012
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
Kaufmann A et al.
The Journal of Molecular Diagnostics : Jmd, 2009
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