Associated Papers
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_7
Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View.
Jang W et al.
International Journal of Genomics, 2022
36275637 (PubMed )
Supplement: 5265686.f1.docx
Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
Herzog JS et al.
Npj Breast Cancer, 2021
34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S3_VUS__n_287_
A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico.
Diaz-Zabala HJ et al.
Cancers, 2018
30400234 (PubMed )
Supplement: cancers-10-00419-s001.pdf
Select a paper to view details