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  1. 1461
    “…The key role of p53 as a tumor suppressor became clear when it was realized that this gene is mutated in 50% of human sporadic cancers, and germline mutations expose carriers to cancer risk throughout their lifespan. …”
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    Do Mutations Turn p53 into an Oncogene?
  2. 1462
    “…Unoperated RHD patients harbored frequent MT-CYB polymorphisms (7.14 ± 14.70 mutations per sample) and accounted for 72.73% of mutations. …”
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    Mitochondrial DNA Mutations and Rheumatic Heart Diseases
  3. 1463
    “…However, the genetic landscape of Chinese colorectal cancer mutation is still poorly understood. In this study, we have performed whole exome-sequencing analysis of 63 CRC cases. …”
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    The somatic mutation landscape of Chinese Colorectal Cancer
  4. 1464
    “…Most confirmed loss-of-function mutations occur in the extracellular part of the IL7Rα while oncogenic mutations are exclusively found in the extracellular juxtamembrane (EJM) or transmembrane regions. …”
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    Deleterious and Oncogenic Mutations in the IL7RA
  5. 1465
    “…All three were homozygous for MEFV p.S208C mutation; however, their phenotype was more severe than previously reported, prompting consideration of an oligogenic autoinflammation model. …”
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    TRAP1 chaperone protein mutations and autoinflammation
  6. 1466
    “…In the presented work, first-order autocatalysis has been applied to the Löwdin's mechanism of spontaneous mutations in DNA. Describing double proton transfers between complimentary nucleotide bases along the chain by first-order autocatalytic reactions, the corresponding master equation for protons in tautomeric states becomes non-linear, and at non-equilibrium conditions this leads to the non-Poissonian distribution of spontaneous mutations in DNA. …”
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    Non-poissonian Distribution of Point Mutations in DNA
  7. 1467
    “…Aggressive cancers often have activating mutations in growth-controlling oncogenes and inactivating mutations in tumor-suppressor genes. …”
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    MYCN amplification and ATRX mutations are incompatible in neuroblastoma
  8. 1468
    “…Mutational signatures provide a powerful alternative for understanding the pathophysiology of cancer. …”
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    Mutational signatures: experimental design and analytical framework
  9. 1469
    “…Therefore, there is a pressing need to investigate the dynamics characteristics induced by ordered-mutations. METHODS: To quantify the ordered-mutation-inducing dynamics, we defined the mutation-sensitivity and the order-specificity that represent if the network is sensitive against a double knockout mutation and if mutation-sensitivity is specific to the mutation order, respectively, using a Boolean network model. …”
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    Effects of ordered mutations on dynamics in signaling networks
  10. 1470
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    SLFN14 gene mutations associated with bleeding
  11. 1471
    “…Pathogenic somatic missense mutations within the DNA polymerase epsilon (POLE) exonuclease domain define the important subtype of ultramutated tumours (‘POLE‐ultramutated’) within the novel molecular classification of endometrial carcinoma (EC). …”
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    Interpretation of somatic POLE mutations in endometrial carcinoma
  12. 1472
    “…Inherited heterozygous mutations of the BAP1 gene increase the susceptibility to carcinogenic fibers, leading to a concept of gene x environment interaction (GxE) as a pathogenetic mechanism of mesothelioma. …”
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    Mesothelioma developing in carriers of inherited genetic mutations
  13. 1473
    “…Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 (BEST1) gene affecting anion transport through the plasma membrane of the retinal pigment epithelium (RPE). …”
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    Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies
  14. 1474
    por FESTING, M. F. W., WRIGHT, M. K.
    Publicado 1972
    “…SEVERAL different mutations causing hypotrichosis are well known in both rats and mice(1,2) but none have so far been described in the hamster.…”
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    New Semi-dominant Mutation in the Syrian Hamster
  15. 1475
    por Yan, Shaomin, Wu, Guang
    Publicado 2009
    “…In this study, we use the amino-acid pair predictability to convert α-galactosidase A with its 137 mutations into scalar sequences, and analyse which amino-acid pairs are more sensitive to mutation. …”
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    Mutation patterns in human α-galactosidase A
  16. 1476
    Publicado 2008
    “…Furthermore, we introduce the orthogonalization theorem for a mutation network. We may easily obtain the mutation relations for data structures among a multiple sequence from the network structure and the orthogonalization procedure of a mutation network. …”
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    Network Structures of Multiple Sequences Induced by Mutation
  17. 1477
    “…Here, in a first step to study this problem theoretically, we analyze mutating pathogens spreading on simple SIR networks with grid-like connectivity. …”
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    Epidemics with mutating infectivity on small-world networks
  18. 1478
    “…In this article, we examine whether and how an analysis based on mutational load might set a limit on the functional fraction. …”
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    Mutational Load and the Functional Fraction of the Human Genome
  19. 1479
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    Impact of mitochondrial DNA mutations in multiple myeloma
  20. 1480
    “…Cancer mutations can elicit protective immunity. Computational methods are critical for selecting these neoantigens for immunotherapy. …”
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    Cancer neoantigens and immunogenicity: mutation position matters
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