61 Matching Annotations
  1. Last 7 days
  2. physoc.onlinelibrary.wiley.com physoc.onlinelibrary.wiley.com
    Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function
    1
    1. scibot 17 Jan 2025
      RRID:SCR_006169

      DOI: 10.1113/JP286367

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    physoc.onlinelibrary.wiley.com/doi/10.1113/JP286367
  3. Dec 2024
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines
    1
    1. scibot 11 Dec 2024
      RRID:SCR_006169

      DOI: 10.1158/2767-9764.CRC-24-0316

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    pmc.ncbi.nlm.nih.gov/articles/PMC11621922/
  5. Nov 2024
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular and modular intricacies of precision oncology
    1
    1. scibot 10 Nov 2024
      SCR_006169

      DOI: 10.3389/fimmu.2024.1476494

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    pmc.ncbi.nlm.nih.gov/articles/PMC11537923/
  7. Oct 2024
  8. link.springer.com link.springer.com
    Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap
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    1. scibot 08 Oct 2024
      RRID:SCR_006169

      DOI: 10.1038/s41587-024-02386-x

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    link.springer.com/article/10.1038/s41587-024-02386-x
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical value of liquid biopsy in FGFR2 fusion-positive cholangiocarcinoma patients during targeted therapy
    2
    1. scibot 04 Oct 2024
      RRID: SCR_006169

      DOI: 10.1158/1078-0432.CCR-23-3780

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    2. scibot 04 Oct 2024
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.CCR-23-3780

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    ncbi.nlm.nih.gov/pmc/articles/PMC11443220/
  10. Sep 2024
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An interconnected data infrastructure to support large-scale rare disease research
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    1. scibot 26 Sep 2024
      RRID:SCR_006169

      DOI: 10.1093/gigascience/giae058

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    ncbi.nlm.nih.gov/pmc/articles/PMC11413801/
  12. Jul 2024
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cerebrospinal fluid cfDNA sequencing for classification of central nervous system glioma
    1
    1. scibot 18 Jul 2024
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.CCR-23-2907

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    ncbi.nlm.nih.gov/pmc/articles/PMC11247324/
  14. Jun 2024
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    MONET: a database for prediction of neoantigens derived from microsatellite loci
    1
    1. scibot 09 Jun 2024
      RRID:SCR_006169

      DOI: 10.3389/fimmu.2024.1394593

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    ncbi.nlm.nih.gov/pmc/articles/PMC11148240/
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Memory/Active T-Cell Activation Is Associated with Immunotherapeutic Response in Fumarate Hydratase–Deficient Renal Cell Carcinoma
    1
    1. scibot 07 Jun 2024
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.CCR-23-2760

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    ncbi.nlm.nih.gov/pmc/articles/PMC11145163/
  17. May 2024
  18. aacrjournals.org aacrjournals.org
    Negative hyperselection of resistance mutations for panitumumab maintenance in RAS wild-type metastatic colorectal cancer (PanaMa phase II trial, AIO KRK 0212)
    1
    1. scibot 23 May 2024
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.CCR-23-3023

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      RRID:SCR_006169 DOI:10.1158/1078-0432.CCR-23-3023
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    aacrjournals.org/clincancerres/article/30/7/1256/741834/Negative-Hyperselection-of-Resistance-Mutations
  19. 52.53.155.43 52.53.155.43
    ccr-23-2907-html.html
    1
    1. scibot 23 May 2024
      SCR_006169

      DOI: 10.1158/1078-0432.ccr-23-2907

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    52.53.155.43/41d915353208947e46d88a61eb38beca559a2aaa/ccr-23-2907-html.html
  20. Apr 2024
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Co-mutations and KRAS G12C inhibitor efficacy in advanced NSCLC
    1
    1. scibot 20 Apr 2024
      RRID:SCR_006169

      DOI: 10.1158/2159-8290.CD-22-1420

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    ncbi.nlm.nih.gov/pmc/articles/PMC11024958/
  22. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia
    1
    1. scibot 03 Apr 2024
      RRID:SCR_006169

      DOI: 10.3390/jof10030198

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    ncbi.nlm.nih.gov/pmc/articles/PMC10970956/
  23. Mar 2024
  24. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel type of monocytic leukemia stem cell revealed by the clinical use of venetoclax-based therapy
    1
    1. scibot 06 Mar 2024
      RRID:SCR_006169

      DOI: 10.1158/2159-8290.CD-22-1297

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    ncbi.nlm.nih.gov/pmc/articles/PMC10527971/
  25. Dec 2023
  26. www.sciencedirect.com www.sciencedirect.com
    Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy
    1
    1. scibot 20 Dec 2023
      RRID:SCR_006169

      DOI: 10.1016/j.celrep.2023.113490

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    sciencedirect.com/science/article/pii/S2211124723015024
  27. 52.53.155.43 52.53.155.43
    physiolgenomics.00070.2023-html.html
    1
    1. scibot 01 Dec 2023
      RRID:SCR_006169

      DOI: 10.6084/m9.figshare.23598732.v4

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    52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
  28. journals.physiology.org journals.physiology.org
    Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
    1
    1. scibot 01 Dec 2023
      RRID:SCR_006169

      DOI: 10.1152/physiolgenomics.00070.2023

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    journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
  29. Nov 2023
  30. www.nature.com www.nature.com
    Preclinical evidence for the effective use of TL-895, a highly selective and potent second-generation BTK inhibitor, for the treatment of B-cell malignancies
    1
    1. scibot 25 Nov 2023
      RRID:SCR_006169

      DOI: 10.1038/s41598-023-47735-z

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    nature.com/articles/s41598-023-47735-z
  31. Sep 2023
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identifying mechanisms of resistance by circulating tumour DNA in EVOLVE, a Phase II Trial of Cediranib Plus Olaparib for Ovarian Cancer at time of PARP Inhibitor Progression
    1
    1. scibot 20 Sep 2023
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.CCR-23-0797

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    ncbi.nlm.nih.gov/pmc/articles/PMC10502468/
  33. Jul 2023
  34. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
    1
    1. scibot 08 Jul 2023
      RRID:SCR_006169

      DOI: 10.3389/fgene.2023.1158350

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    ncbi.nlm.nih.gov/pmc/articles/PMC10319579/
  35. 52.53.155.43 52.53.155.43
    ccr-23-0797-html.html
    1
    1. scibot 08 Jul 2023
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.ccr-23-0797

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    52.53.155.43/2c803156d89f9529c07ad3c21352a7e38912e0ae/ccr-23-0797-html.html
  36. Jun 2023
  37. 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
    1
    1. scibot 22 Jun 2023
      SCR_006169

      DOI: 10.1016/j.devcel.2023.04.012

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    ncbi.nlm.nih.gov/pmc/articles/PMC10281085/
  38. May 2023
  39. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications
    1
    1. scibot 05 May 2023
      RRID:SCR_006169

      DOI: 10.3389/fped.2022.899742

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    ncbi.nlm.nih.gov/pmc/articles/PMC9367218/
  40. Apr 2023
  41. academic.oup.com academic.oup.com
    Regulatory Mendelian Mutation score for GRCh38
    1
    1. scibot 23 Apr 2023
      RRID:SCR_006169

      DOI: 10.1093/gigascience/giad024

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    academic.oup.com/gigascience/article/doi/10.1093/gigascience/giad024/7135629
  42. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Structurally Complex Osteosarcoma Genomes Exhibit Limited Heterogeneity within Individual Tumors and across Evolutionary Time
    1
    1. scibot 14 Apr 2023
      RRID:SCR_006169

      DOI: 10.1158/2767-9764.CRC-22-0348

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    ncbi.nlm.nih.gov/pmc/articles/PMC10093779/
  43. Mar 2023
  44. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach
    1
    1. scibot 24 Mar 2023
      RRID:SCR_006169

      DOI: 10.1158/2767-9764.CRC-22-0355

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    ncbi.nlm.nih.gov/pmc/articles/PMC10032232/
  45. Feb 2023
  46. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comprehensive genomic profiling of upper tract urothelial carcinoma and urothelial carcinoma of the bladder identifies distinct molecular characterizations with potential implications for targeted therapy & immunotherapy
    1
    1. scibot 23 Feb 2023
      SCR_006169

      DOI: 10.3389/fimmu.2022.1097730

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    ncbi.nlm.nih.gov/pmc/articles/PMC9936149/
  47. Jan 2023
  48. www.nature.com www.nature.com
    Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics
    1
    1. scibot 31 Jan 2023
      RRID:SCR_006169

      DOI: 10.1038/s41698-023-00354-3

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    nature.com/articles/s41698-023-00354-3
  49. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human metastatic cholangiocarcinoma patient-derived xenografts and tumoroids for preclinical drug evaluation
    1
    1. scibot 28 Jan 2023
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.CCR-22-2551

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    ncbi.nlm.nih.gov/pmc/articles/PMC9873249/
  50. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes
    1
    1. scibot 07 Jan 2023
      RRID:SCR_006169

      DOI: 10.1158/2159-8290.CD-22-0603

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    ncbi.nlm.nih.gov/pmc/articles/PMC9716259/
  51. Nov 2022
  52. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phase I trial of ribociclib with platinum chemotherapy in ovarian cancer
    1
    1. scibot 24 Nov 2022
      RRID:SCR_006169

      DOI: 10.1172/jci.insight.160573

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    ncbi.nlm.nih.gov/pmc/articles/PMC9675476/
  53. Oct 2022
  54. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
    1
    1. scibot 14 Oct 2022
      RRID:SCR_006169

      DOI: 10.3389/fgene.2022.993064

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    ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
  55. Sep 2022
  56. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrative RNA-omics discovers GNAS alternative splicing as a phenotypic driver of splicing factor-mutant neoplasms
    1
    1. scibot 02 Sep 2022
      RRID:SCR_006169

      DOI: 10.1158/2159-8290.CD-21-0508

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    ncbi.nlm.nih.gov/pmc/articles/PMC8904276/
  57. Aug 2022
  58. www.sciencedirect.com www.sciencedirect.com
    Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins
    1
    1. scibot 27 Aug 2022
      RRID:SCR_006169

      DOI: 10.1016/j.xpro.2022.101648

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    sciencedirect.com/science/article/pii/S2666166722005287
  59. Jun 2022
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators
    1
    1. scibot 15 Jun 2022
      RRID:SCR_006169

      DOI: 10.1016/j.jmb.2022.167529

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    ncbi.nlm.nih.gov/pmc/articles/PMC9077328/
  61. aacrjournals.org aacrjournals.org
    Predictive markers of response to neoadjuvant durvalumab with nab-paclitaxel and dose dense doxorubicin/cyclophosphamide in basal-like triple negative breast cancer
    1
    1. scibot 14 Jun 2022
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.CCR-21-3215

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    aacrjournals.org/clincancerres/article/28/12/2587/699273/Predictive-Markers-of-Response-to-Neoadjuvant
  62. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Humanized Animal Model Predicts Clonal Evolution and Therapeutic Vulnerabilities in Myeloproliferative Neoplasms
    1
    1. scibot 07 Jun 2022
      RRID:SCR_006169

      DOI: 10.1158/2159-8290.CD-20-1652

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    ncbi.nlm.nih.gov/pmc/articles/PMC8716669/
  63. May 2022
  64. aacrjournals.org aacrjournals.org
    Single cell characterization of the cellular landscape of acral melanoma identifies novel targets for immunotherapy
    1
    1. scibot 19 May 2022
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.CCR-21-3145

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    aacrjournals.org/clincancerres/article/28/10/2131/694823/Single-cell-Characterization-of-the-Cellular
  65. Feb 2022
  66. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism
    2
    1. scibot 11 Feb 2022
      SCR_006169

      DOI: 10.3389/fgene.2022.780930

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    2. scibot 10 Feb 2022
      SCR_006169

      DOI: 10.3389/fgene.2022.780930

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    ncbi.nlm.nih.gov/pmc/articles/PMC8819842/
  67. Jan 2022
  68. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
    1
    1. scibot 22 Jan 2022
      SCR_006169

      DOI: 10.1002/jcla.24241

      Resource: ClinVar (RRID:SCR_006169)

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    onlinelibrary.wiley.com/doi/full/10.1002/jcla.24241
  69. Oct 2021
  70. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genomic alterations during the in situ to invasive ductal breast carcinoma transition shaped by the immune system
    1
    1. scibot 02 Oct 2021
      RRID:SCR_006169

      DOI: 10.1158/1541-7786.MCR-20-0949

      Resource: ClinVar (RRID:SCR_006169)

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    ncbi.nlm.nih.gov/pmc/articles/PMC8026652/
  71. Aug 2021
  72. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability
    1
    1. scibot 17 Aug 2021
      RRID:SCR_006169

      DOI: 10.1074/jbc.RA120.014062

      Resource: ClinVar (RRID:SCR_006169)

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    ncbi.nlm.nih.gov/pmc/articles/PMC7450116/
  73. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genomic characterization of de novo metastatic breast cancer
    1
    1. scibot 17 Aug 2021
      RRID:SCR_006169

      DOI: 10.1158/1078-0432.CCR-20-1720

      Resource: ClinVar (RRID:SCR_006169)

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    ncbi.nlm.nih.gov/pmc/articles/PMC7887078/
  74. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
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    1. scibot 04 Aug 2021
      SCR_006169

      DOI: 10.1002/brb3.1134

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    ncbi.nlm.nih.gov/pmc/articles/PMC6236233/
  75. Jul 2021
  76. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    1. scibot 30 Jul 2021
      RRID:SCR_006169

      DOI: 10.1016/j.cmet.2018.09.022

      Resource: ClinVar (RRID:SCR_006169)

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1550413118306302
  77. europepmc.org europepmc.org
    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
    1
    1. scibot 29 Jul 2021
      RRID:SCR_006169

      DOI: 10.7554/eLife.30490

      Resource: ClinVar (RRID:SCR_006169)

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    europepmc.org/articles/PMC5764568/
  78. Apr 2021
  79. www.sciencedirect.com www.sciencedirect.com
    Functional interrogation of DNA damage response variants with base editing screens
    1
    1. scibot 12 Apr 2021
      RRID:SCR_006169

      DOI: 10.1016/j.cell.2021.01.041

      Resource: ClinVar (RRID:SCR_006169)

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    sciencedirect.com/science/article/pii/S0092867421000842
  80. Mar 2021
  81. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
    1
    1. scibot 03 Mar 2021
      RRID:SCR_006169

      DOI: 10.1093/hmg/ddaa268

      Resource: ClinVar (RRID:SCR_006169)

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    academic.oup.com/hmg/article/29/22/3679/6035190
  82. Jan 2021
  83. academic.oup.com academic.oup.com
    Genome diversity in Ukraine
    1
    1. scibot 22 Jan 2021
      RRID:SCR_006169

      DOI: 10.1093/gigascience/giaa159

      Resource: ClinVar (RRID:SCR_006169)

      Curator: @evieth

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    academic.oup.com/gigascience/article/10/1/giaa159/6079618
  84. Sep 2020
  85. www.sciencedirect.com www.sciencedirect.com
    Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss
    1
    1. scibot 17 Sep 2020
      RRID:SCR_006169

      DOI: 10.1016/j.csbj.2020.05.025

      Resource: ClinVar (RRID:SCR_006169)

      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S2001037020302889
  86. 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 06 Sep 2020
      RRID:SCR_006169

      DOI: 10.1371/journal.pone.0227859

      Resource: ClinVar (RRID:SCR_006169)

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    ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
  87. www.jbc.org www.jbc.org
    Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome
    1
    1. scibot 05 Sep 2020
      RRID:SCR_006169

      DOI: 10.1074/jbc.RA120.012614

      Resource: ClinVar (RRID:SCR_006169)

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    jbc.org/content/295/20/7075.full
  88. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
    1
    1. scibot 04 Sep 2020
      RRID: SCR_006169

      DOI: 10.1002/brb3.1597

      Resource: ClinVar (RRID:SCR_006169)

      Curator: @Naa003

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    onlinelibrary.wiley.com/doi/10.1002/brb3.1597
  89. Jan 2020
  90. www.sciencedirect.com www.sciencedirect.com
    A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation
    1
    1. scibot 13 Jan 2020
      RRID:SCR_006169

      DOI: 10.1016/j.neuron.2019.06.011

      Resource: ClinVar (RRID:SCR_006169)

      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S0896627319305616
  91. Nov 2018
  92. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Untitled document
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    1. scibot 05 Nov 2018
      RRID:SCR_006169

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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1134
  93. Nov 2017
  94. elifesciences.org elifesciences.org
    Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
    2
    1. scibot 08 Nov 2017
      SCR_006169

      Curator: @chewbeccax

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      (ClinVar, RRID:SCR_006169)

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      RRID:SCR_006169 RRIDCUR:Validated
    2. scibot 08 Nov 2017
      SCR_006169

      Curator: @gabimpine

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      (ClinVar, RRID:SCR_006169)

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    elifesciences.org/articles/23813
  95. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Olfaction in Parkin carriers in Chinese patients with Parkinson disease
    1
    1. scibot 08 Nov 2017
      SCR_006169

      Curator: @chewbeccax

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      (ClinVar, RRID:SCR_006169)

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      RRID:SCR_006169 RRIDCUR:Validated
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    ncbi.nlm.nih.gov/pmc/articles/PMC5434185/
  96. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pubertal development in healthy children is mirrored by DNA methylation patterns in peripheral blood
    1
    1. scibot 08 Nov 2017
      SCR_006169

      Curator: @gabimpine

      Resource used:

      (ClinVar, RRID:SCR_006169)

      SciCrunch record: RRID:SCR_006169

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_006169 RRIDCUR:Validated
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    ncbi.nlm.nih.gov/pmc/articles/PMC4923870/