Associated Papers
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Uguen K et al.
Nature Communications, 2026
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
40305610 (PubMed )
Supplement: sciadv.adt9846_sm.pdf
Intimal Sarcoma with MDM2/CDK4 Amplification and p16 Overexpression: A Review of Histological Features in Primary Tumor and Xenograft, with Immunophenotype and Molecular Profiling.
Giner F et al.
International Journal of Molecular Sciences, 2023
Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
Isaacson AL et al.
American Journal of Clinical Pathology, 2022
AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.
Taylor Gonzalez DJ et al.
Ophthalmology Science, 0
40114711 (PubMed )
Supplement: mmc1.docx
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