50 Matching Annotations
  1. Sep 2025
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report
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    pmc.ncbi.nlm.nih.gov/articles/PMC12431744/
  3. Jul 2025
  4. www.nature.com www.nature.com
    Shared genomic features of HIV+ diffuse large B-cell lymphoma in two African cohorts
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    nature.com/articles/s41598-025-10529-6
  5. Feb 2025
  6. 52.53.155.43 52.53.155.43
    PDF-html.html
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    52.53.155.43/3f15b87d98f941e9a84b5e41f881bf902254c0f2/PDF-html.html
  7. Jan 2025
  8. 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
  9. Dec 2024
  10. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines
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    pmc.ncbi.nlm.nih.gov/articles/PMC11621922/
  11. www.mdpi.com www.mdpi.com
    Biliverdinuria Caused by Exonic BLVRA Deletions in Two Dogs with Green Urine
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    mdpi.com/2073-4425/15/12/1561
  12. Jul 2024
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants
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    pmc.ncbi.nlm.nih.gov/articles/PMC11278020/
  14. Apr 2024
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Co-mutations and KRAS G12C inhibitor efficacy in advanced NSCLC
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    ncbi.nlm.nih.gov/pmc/articles/PMC11024958/
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report
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    ncbi.nlm.nih.gov/pmc/articles/PMC10998992/
  17. Mar 2024
  18. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC10527971/
  19. Feb 2024
  20. www.mdpi.com www.mdpi.com
    Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia
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    mdpi.com/2073-4425/15/2/193
  21. Dec 2023
  22. 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
  23. www.sciencedirect.com www.sciencedirect.com
    Integrated multi-omics profiling to dissect the spatiotemporal evolution of metastatic hepatocellular carcinoma
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    sciencedirect.com/science/article/pii/S1535610823004014
  24. Jul 2023
  25. www.sciencedirect.com www.sciencedirect.com
    Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans
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    sciencedirect.com/science/article/pii/S2589004223012701
  26. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest
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    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  27. Jun 2023
  28. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    DAB2IP Is a Bifunctional Tumor Suppressor That Regulates Wild-Type RAS and Inflammatory Cascades in KRAS Mutant Colon Cancer
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    ncbi.nlm.nih.gov/pmc/articles/PMC10236151/
  29. May 2023
  30. www.mdpi.com www.mdpi.com
    An ABCC9 Missense Variant Is Associated with Sudden Cardiac Death and Dilated Cardiomyopathy in Juvenile Dogs
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    mdpi.com/2073-4425/14/5/988
  31. Feb 2023
  32. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  33. Dec 2022
  34. aacrjournals.org aacrjournals.org
    Treatment represents a key driver of metastatic cancer evolution
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    aacrjournals.org/cancerres/article/82/16/2918/707589/Treatment-Represents-a-Key-Driver-of-Metastatic
  35. Oct 2022
  36. 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/
  37. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
  38. Sep 2022
  39. www.nature.com www.nature.com
    ADGRL3 genomic variation implicated in neurogenesis and ADHD links functional effects to the incretin polypeptide GIP
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    nature.com/articles/s41598-022-20343-z
  40. Jul 2022
  41. 52.53.155.43 52.53.155.43
    can-22-0562-html.html
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    52.53.155.43/8c7b2e34266716d0e8a158964df85929e854412b/can-22-0562-html.html
  42. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A randomized clinical trial of precision prevention materials incorporating MC1R genetic risk to improve skin cancer prevention activities among Hispanics
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    ncbi.nlm.nih.gov/pmc/articles/PMC9286490/
  43. www.sciencedirect.com www.sciencedirect.com
    Assessment of skin cancer precision prevention materials among Hispanics in Florida and Puerto Rico
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    sciencedirect.com/science/article/pii/S0738399122002920
  44. Jun 2022
  45. europepmc.org europepmc.org
    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
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    europepmc.org/article/PMC/PMC9161282
  46. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
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    ncbi.nlm.nih.gov/pmc/articles/PMC9161282/
  47. Apr 2022
  48. link.springer.com link.springer.com
    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
  49. 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
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    jeccr.biomedcentral.com/articles/10.1186/s13046-022-02333-1/tables/2
  50. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
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    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  51. Jan 2022
  52. crc.aacrjournals.org crc.aacrjournals.org
    A Randomized Clinical Trial of Precision Prevention Materials Incorporating MC1R Genetic Risk to Improve Skin Cancer Prevention Activities Among HispanicsPrecision Prevention Trial for Skin Cancer in Hispanics
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    crc.aacrjournals.org/cancerrescommun/article/2/1/28/674376/A-Randomized-Clinical-Trial-of-Precision
  53. Aug 2021
  54. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    sciencedirect.com/science/article/pii/S0960982218315549
  55. Jul 2021
  56. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy
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    onlinelibrary.wiley.com/doi/10.1002/brb3.1455
  57. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Functional analysis of novel RUNX2 mutations identified in patients with Cleidocranial dysplasia
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    onlinelibrary.wiley.com/doi/10.1111/cge.13610
  58. link.springer.com link.springer.com
    Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency
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    link.springer.com/article/10.1007/s11011-019-00464-7
  59. academic.oup.com academic.oup.com
    POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women
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    academic.oup.com/jes/article/1/3/162/3063797
  60. www.sciencedirect.com www.sciencedirect.com
    A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions
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    sciencedirect.com/science/article/pii/S1097276518308979
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gene mutations in a Han Chinese Alzheimer's disease cohort
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    ncbi.nlm.nih.gov/pmc/articles/PMC6346667/
  62. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Gene mutations in a Han Chinese Alzheimer's disease cohort
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1180
  63. 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
  64. May 2021
  65. 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
  66. Apr 2021
  67. www.sciencedirect.com www.sciencedirect.com
    A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients
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    sciencedirect.com/science/article/pii/S2211124721002977
  68. Mar 2021
  69. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C
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    ncbi.nlm.nih.gov/pmc/articles/PMC7940930/
  70. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
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    ncbi.nlm.nih.gov/pmc/articles/PMC7930628/
  71. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
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    academic.oup.com/hmg/article/29/22/3679/6035190
  72. Sep 2020
  73. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
  74. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
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    onlinelibrary.wiley.com/doi/10.1002/brb3.1597
  75. diabetes.diabetesjournals.org diabetes.diabetesjournals.org
    Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance
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    diabetes.diabetesjournals.org/content/68/11/2049
  76. Jan 2020
  77. www.sciencedirect.com www.sciencedirect.com
    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
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    sciencedirect.com/science/article/pii/S0092867419307809
  78. Nov 2018
  79. www.sciencedirect.com www.sciencedirect.com
    Molecular, Pathological, Radiological, and Immune Profiling of Non-brainstem Pediatric High-Grade Glioma from the HERBY Phase II Randomized Trial
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    sciencedirect.com/science/article/pii/S1535610818301752