Associated Papers
Bioinformatic analysis of rare endothelial protein C receptor missense variants associated with coagulation and thrombophilia risk.
Unar A et al.
Scientific Reports, 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: mmc2.xlsx › c_Pred-data
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1
IntOGen-mutations identifies cancer drivers across tumor types.
Gonzalez-Perez A et al.
Nature Methods, 2013
24037244 (PubMed )
Supplement: 41592_2013_BFnmeth2642_MOESM309_ESM.pdf
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