Associated Papers
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
38895336 (PubMed )
Supplement: media-2.xlsx › Table_S2
Pathogenic variants in TSC2 might cause premature ovarian insufficiency through activated mTOR induced hyperactivation of primordial follicles.
Xu B et al.
Fertility and Sterility, 2022
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B et al.
Human Molecular Genetics, 2022
35441217 (PubMed )
Supplement: hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx › SuppTable1B
Select a paper to view details