Associated Papers
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
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Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST8-CDH1
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Selvanathan A et al.
Genes, 2020
32260281 (PubMed )
Supplement: genes-11-00391-s001.zip › genes-715863-supplementary.xlsx › Final_Variant_List
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S1_CDH1_A
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K et al.
Human Mutation, 2018
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