Associated Papers
Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome.
Nielsen T et al.
Elife, 2025
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Mutational analysis of ribosomal proteins in a cohort of pediatric patients with T-cell acute lymphoblastic leukemia reveals Q123R, a novel mutation in RPL10.
Bacci L et al.
Frontiers in Genetics, 2022
36482893 (PubMed )
Supplement: DataSheet1.xlsx › Suppl._Table_3
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.
Thorolfsdottir RB et al.
Communications Biology, 2018
30271950 (PubMed )
Supplement: 42003_2018_68_MOESM1_ESM.pdf
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M et al.
Neuro-oncology Advances, 0
38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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