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  1. 1521
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    Co-mutations in tumor immune microenvironment and immunotherapy
  2. 1522
    “…The purpose of this study was to decipher the mutational signature of CLM on an exome level. We enrolled a cohort of 66 unrelated probands (including 47 families) with CLM requiring surgical correction. …”
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    Deciphering the mutational signature of congenital limb malformations
  3. 1523
    “…The newly developed pharmaceutical agents are aimed towards specific mutations, detected in individual patients inflicted by lung cancer. …”
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    Treatment of Rare Mutations in Patients with Lung Cancer
  4. 1524
    “…Among EGFR mutations, 47.46% were EGFR-19-deletion, 42.37% EGFR-21-L858R mutation, 4.24% EGFR-20-T790M mutation, 2.54% EGFR-21-L861Q mutation, 2.54% EGFR-20-insertion, and 0.85% EGFR-18-G719X mutation. …”
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    Analysis of Multigene Mutations in Lung Adenocarcinoma in Zunyi
  5. 1525
    por Wan, Yi Ching Esther, Chan, Kui Ming
    Publicado 2021
    “…Recent efforts to catalogue histone mutations in cancer patients have revealed thousands of histone mutations across different types of cancer. …”
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    Histone H2B Mutations in Cancer
  6. 1526
    “…Study of mtDNA mutations is challenging because the pathogenic phenotype associated with such mutations depends on the level of its heteroplasmy (proportion of mtDNA copies carrying the mutation) and can be tissue-specific. …”
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    The Role of Mitochondrial Mutations and Chronic Inflammation in Diabetes
  7. 1527
    “…The cohesin complex is crucial for mediating sister chromatid cohesion and for hierarchal three-dimensional organization of the genome. Mutations in cohesin genes are present in a range of cancers. …”
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    Cohesin Mutations in Cancer: Emerging Therapeutic Targets
  8. 1528
    “…The lips-6 gene encodes a putative lipase that plays a role in adult starvation response through a pathway that is parallel to the dauer pathway in larval Caenorhabditis elegans worms. We created a mutation of lips-6 to study its effects on lifespan and the ascaroside profile. …”
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    A Mutation of lips-6 in C. elegans
  9. 1529
    “…Conceivably, driver mutations may not confer the same advantage in the microenvironment of the primary tumor and of the colonization site, hence phenotypic plasticity rather than rigid cellular states hardwired by mutations becomes advantageous during metastasis. …”
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    Roles for growth factors and mutations in metastatic dissemination
  10. 1530
    por Sazci, Ali, Idrisoglu, Halil Atilla
    Publicado 2019
    “…We report a pregnancy in a patient with Parkinson's disease with PARK2 mutations. Although pregnancy is uncommon in patients with Parkinson's disease, an early-onset Parkinson's patient with three silent and two missense mutations in the PARK2 gene is presented here.…”
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    Pregnancy in Parkinson's disease with PARK2 mutations()()
  11. 1531
    “…We use mutperiod to demonstrate that DNA mismatch repair contributes to the nucleosome mutational periodicity observed in esophageal adenocarcinomas, and that the strength of this mutational periodicity varies in different chromatin states.…”
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    Mutperiod: Analysis of periodic mutation rates in nucleosomes
  12. 1532
    “…G→A mutations occurred in 53.8% (7/13) of the patients, while G→T mutations occurred in 46.2% (6/13) of the patients. …”
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    KRAS mutations in patients with colorectal cancer in Libya
  13. 1533
    por Jing, Zhaojun, Chen, Zhibin, Jiang, Yong
    Publicado 2021
    “…Dentin sialophosphoprotein ( DSPP ) gene mutations cause autosomal dominantly inherited diseases. …”
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    Effects of DSPP Gene Mutations on Periodontal Tissues
  14. 1534
    “…SIMPLE SUMMARY: Leukaemia occurs when specific mutations promote aberrant transcriptional and proliferation programs, which drive uncontrolled cell division and inhibit the cell’s capacity to differentiate. …”
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    The Mutational Landscape of Myeloid Leukaemia in Down Syndrome
  15. 1535
    “…The method was tested over another saturation mutagenesis data set (CcdB; 1,534 mutations) and the Missense3D data set (4,099 mutations). …”
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    Packpred: Predicting the Functional Effect of Missense Mutations
  16. 1536
    “…Germline heterozygous PTEN mutations have been associated with high prevalence of autism spectrum disorder (ASD) and elevated rates and severity of broadly defined behavioral problems. …”
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    Psychiatric Characteristics Across Individuals With PTEN Mutations
  17. 1537
    por Müller, Ulrich
    Publicado 2021
    “…Genetic causes of SCAs are either repeat expansions within disease genes or common mutations (point mutations, deletions, insertions etc.). …”
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    Spinocerebellar ataxias (SCAs) caused by common mutations
  18. 1538
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    Long-Term Outcome of Patients with TPO Mutations
  19. 1539
    “…In total, we identified 79 somatic mutations in 49/135 (36%) samples. The minority (n = 8) of mutations was identified in DNA methylation/demethylation genes, while the majority (n = 41), in histone modifier genes, among which mutations were most commonly found in KMT2D and KMT2C. …”
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    Mutations in Epigenetic Regulation Genes in Gastric Cancer
  20. 1540
    “…The importance of NPM1 mutation on prognosis and the treatment options available to patients will also be reviewed along with current guidelines recommending the rapid return of NPM1 mutational screening results and the importance of employing a suitable laboratory assay to achieve this. …”
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    Significance of NPM1 Gene Mutations in AML
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