Associated Papers
Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.
Li D et al.
Npj Precision Oncology, 2025
40514442 (PubMed )
Supplement: 41698_2025_993_MOESM2_ESM.xlsx › RNA-unique_variants__Impacts_
PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans.
Tsarin L et al.
Database : the Journal of Biological Databases and Curation, 2025
41263451 (PubMed )
Supplement: baaf076_supplemental_files.zip › Supplementary_Table_S2.xlsx › Table_S4
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808701 (PubMed )
Supplement: media-2.xlsx › T6
Select a paper to view details