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  1. 2641
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    BRCA Germline Mutations in Prostate Cancer: The Future Is Tailored
  2. 2642
    “…Additionally, the correlation between high tumor mutation burden and microsatellite instability was confirmed. …”
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    Challenges in bioinformatics approaches to tumor mutation burden analysis
  3. 2643
    “…This perturbs the mutation spectrum (relative mutation rates in different local nucleotide contexts). …”
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    Nonparametric coalescent inference of mutation spectrum history and demography
  4. 2644
    “…The RAS oncogene is among the most commonly mutated in cancer. RAS mutations are identified in about half of patients diagnosed with metastatic colorectal cancer (mCRC), conferring poor prognosis and lack of response to anti-epidermal growth factor receptor (EGFR) antibodies. …”
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    Strategies to tackle RAS-mutated metastatic colorectal cancer
  5. 2645
    por Warren, René L., Birol, Inanc
    Publicado 2021
    “…Genome mutation reports are available for download from BCGSC. …”
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    Interactive SARS-CoV-2 mutation timemaps
  6. 2646
    por Rogers, Eve H.
    Publicado 2021
    “…Somatic mutations in cancer genomes can be caused by many different mutational processes, each of which produce distinctive patterns termed “mutational signatures”. …”
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    Using CRISPR to understand how cancer mutations happen
  7. 2647
    “…CONCLUSION: Our report expands the cardiac phenotype of CACNA1C variants and reflects the variable expressivity of mutations in the L‐type Ca(2+) channel.…”
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    Expanding the phenotype of CACNA1C mutation disorders
  8. 2648
    “…Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. …”
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    Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation
  9. 2649
    “…Most of the mutations were clinically significant. The study analyzes the mutation profile of HBV in different oncohematological diseases and the frequency of individual mutations. …”
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    Detection of S-HBsAg Mutations in Patients with Hematologic Malignancies
  10. 2650
    por Subramanian, Sankar
    Publicado 2021
    “…OBJECTIVE: Domestication of wild animals results in a reduction in the effective population size, and this could affect the deleterious mutation load of domesticated breeds. Furthermore, artificial selection will also contribute to the accumulation of deleterious mutations due to the increased rate of inbreeding among these animals. …”
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    Harmful mutation load in the mitochondrial genomes of cattle breeds
  11. 2651
    “…Gene amplification by PCR and sequential analysis identified a missense mutation in exon 3 region of APRT gene in the patient and her family members. …”
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    A Rare Genetic Mutation in a Stone Former
  12. 2652
    por Liu, Haoxuan, Zhang, Jianzhi
    Publicado 2021
    “…What determines the rate (μ) and molecular spectrum of mutation is a fundamental question. The prevailing hypothesis asserts that natural selection against deleterious mutations has pushed μ to the minimum achievable in the presence of genetic drift, or the drift barrier. …”
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    The rate and molecular spectrum of mutation are selectively maintained in yeast
  13. 2653
    “…Spontaneous mutations fuel evolutionary processes and differ in consequence, but the consequences depend on the environment. …”
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    Fitness effects of spontaneous mutations in a warming world
  14. 2654
    “…Mutations in the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) occur spontaneously during replication. …”
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    SARS-CoV-2 Mutations and their Viral Variants
  15. 2655
    “…Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). …”
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    X-linked hypophosphatemic rickets: a new mutation
  16. 2656
    “…The objective of this study was to clarify the mechanism of developing DCM caused by LMNA mutation. Methods and Results: We assessed cardiomyocyte phenotypes and characteristics focusing on cell cycle activity in mice with Lmna mutation. …”
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    Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation
  17. 2657
    por Paci, Emanuele, Ross, James F.
    Publicado 2021
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    Computational methods to predict the mutational landscape of the spike protein
  18. 2658
    “…We also discovered that 2 of 16 CRCs (12.5%) harbored intratumoral heterogeneity (ITH) of the NLRP9 frameshift mutations in one or more areas. In both GC and CRC with MSI-H, NLRP9 expression in NLRP9-mutated cases was significantly lower than that in NLRP9-non-mutated cases. …”
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    Somatic Mutation of NLRP Genes in Gastric and Colonic Cancers
  19. 2659
    “…Thus, our aims were to investigate gBRCA mutation frequency in a cohort of postmenopausal Brazilian BC patients and the association of gBRCA1/BRCA2 and PIK3CA somatic mutations. …”
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    Germline and Somatic mutations in postmenopausal breast cancer patients
  20. 2660
    por Chang, Darwin, Shain, A. Hunter
    Publicado 2021
    “…The main challenge is that these tumors have high mutation burdens, primarily a consequence of UV-radiation-induced DNA damage from sunlight, making it difficult to distinguish driver mutations from passenger mutations. …”
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    The landscape of driver mutations in cutaneous squamous cell carcinoma
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