18 Matching Annotations
  1. Nov 2022
  2. www.pnas.org www.pnas.org
    Homologous recombination–deficient mutation cluster in tumor suppressor <i>RAD51C</i> identified by comprehensive analysis of cancer variants
    1
    1. scibot 17 Nov 2022
      RRID:SCR_002182

      DOI: 10.1073/pnas.2202727119

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    pnas.org/doi/abs/10.1073/pnas.2202727119
  3. Oct 2022
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2
    1
    1. scibot 26 Oct 2022
      RRID:SCR_002182

      DOI: 10.3389/fphar.2022.931089

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    ncbi.nlm.nih.gov/pmc/articles/PMC9579345/
  5. www.cell.com www.cell.com
    Motor neurons use push-pull signals to direct vascular remodeling critical for their connectivity
    1
    1. scibot 18 Oct 2022
      SCR_002182

      DOI: 10.1016/j.neuron.2022.09.021

      Resource: PROVEAN (RRID:SCR_002182)

      Curator: @scibot

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    cell.com/neuron/fulltext/S0896-6273(22)00860-1
  6. Sep 2022
  7. www.nature.com www.nature.com
    ADGRL3 genomic variation implicated in neurogenesis and ADHD links functional effects to the incretin polypeptide GIP
    1
    1. scibot 24 Sep 2022
      RRID:SCR_002182

      DOI: 10.1038/s41598-022-20343-z

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    nature.com/articles/s41598-022-20343-z
  8. Jun 2022
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Prediction of the effects of the top 10 nonsynonymous variants from 30229 SARS-CoV-2 strains on their proteins
    1
    1. scibot 17 Jun 2022
      RRID:SCR_002182

      DOI: 10.12688/f1000research.72904.2

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    ncbi.nlm.nih.gov/pmc/articles/PMC9184924/
  10. Apr 2022
  11. link.springer.com link.springer.com
    Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome
    1
    1. scibot 23 Apr 2022
      RRID:SCR_002182

      DOI: 10.1007/s13258-022-01249-6

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    link.springer.com/article/10.1007/s13258-022-01249-6
  12. jeccr.biomedcentral.com jeccr.biomedcentral.com
    Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy
    1
    1. scibot 14 Apr 2022
      RRID:SCR_002182

      DOI: 10.1186/s13046-022-02333-1

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    jeccr.biomedcentral.com/articles/10.1186/s13046-022-02333-1/tables/2
  13. Jan 2022
  14. f1000research.com f1000research.com
    F1000Research Article: Prediction of the Effects of Nonsynonymous Variants on SARS-CoV-2 Proteins.
    1
    1. scibot 12 Jan 2022
      RRID:SCR_002182

      DOI: 10.12688/f1000research.72904.1

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    f1000research.com/articles/11-9
  15. Dec 2021
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A high-quality genome and comparison of short- versus long-read transcriptome of the palaearctic duck Aythya fuligula (tufted duck)
    1
    1. scibot 23 Dec 2021
      RRID:SCR_002182

      DOI: 10.1093/gigascience/giab081

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    ncbi.nlm.nih.gov/pmc/articles/PMC8685854/
  17. Oct 2021
  18. link.springer.com link.springer.com
    Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
    1
    1. scibot 05 Oct 2021
      RRID:SCR_002182

      DOI: 10.1007/s00439-021-02372-2

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    link.springer.com/article/10.1007/s00439-021-02372-2
  19. Jul 2021
  20. www.frontiersin.org www.frontiersin.org
    KAE1 Allelic Variants Affect TORC1 Activation and Fermentation Kinetics in Saccharomyces cerevisiae
    1
    1. scibot 29 Jul 2021
      PROVEAN

      DOI: 10.3389/fmicb.2019.01686

      Resource: PROVEAN (RRID:SCR_002182)

      Curator: @Naa003

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      RRIDCUR:Missing RRID:SCR_002182
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    frontiersin.org/articles/10.3389/fmicb.2019.01686/full
  21. elifesciences.org elifesciences.org
    Analysis of the genomic architecture of a complex trait locus in hypertensive rat models links Tmem63c to kidney damage
    1
    1. scibot 28 Jul 2021
      PROVEAN

      DOI: 10.7554/eLife.42068

      Resource: PROVEAN (RRID:SCR_002182)

      Curator: @Naa003

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    elifesciences.org/articles/42068
  22. May 2021
  23. www.sciencedirect.com www.sciencedirect.com
    Identification of genetic biomarkers in urine for early detection of prostate cancer
    1
    1. scibot 04 May 2021
      RRID: SCR_002182

      DOI: 10.1016/j.currproblcancer.2020.100616

      Resource: PROVEAN (RRID:SCR_002182)

      Curator: @Naa003

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    sciencedirect.com/science/article/pii/S0147027220301033
  24. Mar 2021
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
    1
    1. scibot 09 Mar 2021
      RRID:SCR_002182

      DOI: 10.3389/fgene.2021.619950

      Resource: PROVEAN (RRID:SCR_002182)

      Curator: @evieth

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    ncbi.nlm.nih.gov/pmc/articles/PMC7930628/
  26. Sep 2020
  27. diabetes.diabetesjournals.org diabetes.diabetesjournals.org
    Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance
    1
    1. scibot 23 Sep 2020
      RRID:SCR_002182

      DOI: 10.2337/db19-0608

      Resource: PROVEAN (RRID:SCR_002182)

      Curator: @evieth

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    diabetes.diabetesjournals.org/content/68/11/2049
  28. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract
    1
    1. scibot 10 Sep 2020
      RRID:SCR_002182

      DOI: 10.1371/journal.pone.0227859

      Resource: PROVEAN (RRID:SCR_002182)

      Curator: @evieth

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    ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
  29. Jan 2020
  30. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human pancreatic cancer cell exosomes, but not human normal cell exosomes, act as an initiator in cell transformation
    1
    1. scibot 13 Jan 2020
      RRID:SCR_002182

      DOI: 10.7554/eLife.40226

      Resource: PROVEAN (RRID:SCR_002182)

      Curator: @evieth

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      RRID:SCR_002182 RRIDCUR:Validated
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    ncbi.nlm.nih.gov/pmc/articles/PMC6538373/
  31. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation and epilepsy
    1
    1. scibot 13 Jan 2020
      RRID:SCR_002182

      DOI: 10.1111/jnc.14828

      Resource: PROVEAN (RRID:SCR_002182)

      Curator: @Naa003

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      RRID:SCR_002182 RRIDCUR:Validated
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    onlinelibrary.wiley.com/doi/abs/10.1111/jnc.14828