22 Matching Annotations
  1. Last 7 days
  2. www.biorxiv.org www.biorxiv.org
    TrioNsight: Building a meta-predictor to evaluate the clinical impact of TrioN-like Dbl-homology domain variants
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    biorxiv.org/content/10.64898/2026.07.17.739111v1
  3. Jun 2026
  4. www.sciencedirect.com www.sciencedirect.com
    Clonal origin and early lineage divergence in adenosquamous carcinoma
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    sciencedirect.com/science/article/pii/S2211124726005486
  5. May 2026
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Protocol for identifying genetic modifiers of phenotypes in individuals with disease-associated variants
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    pmc.ncbi.nlm.nih.gov/articles/PMC13188092/
  7. www.mdpi.com www.mdpi.com
    Distinct Associations of GTF2I, TP53, and NOTCH1 Variants with Indolent and Aggressive Thymic Epithelial Tumors in Vietnamese Patients
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    mdpi.com/2073-4425/17/5/524
  8. Apr 2026
  9. 54.241.53.176 54.241.53.176
    s12943-026-02607-8_reference-html.html
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    54.241.53.176/ec98e370c2c5d833c65046a866821087da2d5dab/s12943-026-02607-8_reference-html.html
  10. Jan 2025
  11. physoc.onlinelibrary.wiley.com physoc.onlinelibrary.wiley.com
    Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function
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    physoc.onlinelibrary.wiley.com/doi/10.1113/JP286367
  12. Aug 2024
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Deciphering cancer genomes with GenomeSpy: a grammar-based visualization toolkit
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    ncbi.nlm.nih.gov/pmc/articles/PMC11299109/
  14. Jan 2024
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Evolution of Polyclonal Antibody from Specific Epitope 47kDA for Detection of Bladder Cancer
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    ncbi.nlm.nih.gov/pmc/articles/PMC10762744/
  16. Dec 2023
  17. www.sciencedirect.com www.sciencedirect.com
    Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review
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    sciencedirect.com/science/article/pii/S1059131123003230
  18. 52.53.155.43 52.53.155.43
    physiolgenomics.00070.2023-html.html
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    52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
  19. Oct 2023
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas
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    ncbi.nlm.nih.gov/pmc/articles/PMC10560290/
  21. Aug 2023
  22. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Distinct mechanisms of mismatch repair deficiency delineate two modes of response to PD-1 immunotherapy in endometrial carcinoma
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    ncbi.nlm.nih.gov/pmc/articles/PMC9905265/
  23. Jun 2023
  24. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A platform for efficient establishment and drug-response profiling of high-grade serous ovarian cancer organoids
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    ncbi.nlm.nih.gov/pmc/articles/PMC10281085/
  25. May 2023
  26. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach
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    ncbi.nlm.nih.gov/pmc/articles/PMC10225684/
  27. Nov 2022
  28. www.sciencedirect.com www.sciencedirect.com
    Reconstructing mutational lineages in breast cancer by multi-patient-targeted single-cell DNA sequencing
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    sciencedirect.com/science/article/pii/S2666979X22001689
  29. Oct 2022
  30. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2
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    ncbi.nlm.nih.gov/pmc/articles/PMC9579345/
  31. Jun 2022
  32. link.springer.com link.springer.com
    Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank
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    link.springer.com/article/10.1186/s12915-022-01349-5
  33. Apr 2022
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    Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome
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    link.springer.com/article/10.1007/s13258-022-01249-6
  35. Jul 2021
  36. www.sciencedirect.com www.sciencedirect.com
    Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis
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    sciencedirect.com/science/article/pii/S2211124721006914
  37. May 2021
  38. www.sciencedirect.com www.sciencedirect.com
    Identification of genetic biomarkers in urine for early detection of prostate cancer
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    sciencedirect.com/science/article/pii/S0147027220301033
  39. Feb 2021
  40. elifesciences.org elifesciences.org
    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy
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    elifesciences.org/articles/64434
  41. Sep 2020
  42. elifesciences.org elifesciences.org
    Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism
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    elifesciences.org/articles/56185