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  1. 521
    “…There were 3 cases (5.1%) in which no mutations could be detected and germline mutations were detected in 19.5% (8/41) of unilateral cases. …”
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    Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
  2. 522
    “…Heterozygous mutations within homozygous sequences descended from a recent common ancestor offer a way to ascertain de novo mutations across multiple generations. …”
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    Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes
  3. 523
    “…Both the relaxation of purifying selection on passenger mutations and the positive selection of driver mutations may contribute to the increased C(N)/C(S) values of human genes in cancer genomes compared with the p(N)/p(S) values in human populations. …”
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    Mutation-profile-based methods for understanding selection forces in cancer somatic mutations: a comparative analysis
  4. 524
    “…None of the cases with a mutation had a second SOX17 mutation or evidence of allelic loss. …”
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    Novel SOX17 frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations
  5. 525
    “…In addition, we observed that c.681G>A, the common Middle Eastern mutation, was the most common mutation in our patients. …”
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    Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations
  6. 526
    “…It was concluded that not all BRCA1 missense mutations are pathogenic and that any new BRCA1 mutation should be assessed for its effect on the tumor suppressor function of BRCA1.…”
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    Functional analysis of BRCT missense mutations in BRCA1-mutated Chinese Han familial breast cancer
  7. 527
    “…The preliminary network-based mutational analysis suggested that the two residues, Arg-21 and Asn-121, have an apparent mutational potential for fine-tuning of AzoA, based on their beneficial pleiotropic feedbacks. …”
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    Mutation network-based understanding of pleiotropic and epistatic mutational behavior of Enterococcus faecalis FMN-dependent azoreductase
  8. 528
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    MYD88 mutations predict unfavorable prognosis in Chronic Lymphocytic Leukemia patients with mutated IGHV gene
  9. 529
    “…In the mutation-positive patients, their available parental DNA was analyzed to determine the parental origin of the mutation. …”
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    Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations
  10. 530
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    WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
  11. 531
    “…Four out of 24 thyroid follicular adenomas analyzed contained mutated N‐ras codon 61, and one contained the mutated H‐ras codon 61. …”
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    ras Mutations in Endocrine Tumors: Mutation Detection by Polymerase Chain Reaction‐Single Strand Conformation Polymorphism
  12. 532
    “…At 48 hours there is a significant increase in C/G->T/A mutations that is not represented in DNA treated with UNG. …”
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    Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice
  13. 533
    “…Significantly higher RASSF1 methylation levels were observed in association with BRCA1/2 mutations, HER2 expression and high tumor grade. Significantly higher AR methylation levels were observed in BRCA1/2 wild-type cases and higher WNT1 methylation levels in PR negative cases. …”
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    Gene-specific methylation profiles in BRCA-mutation positive and BRCA-mutation negative male breast cancers
  14. 534
    por Winbo, Annika, Rydberg, Annika
    Publicado 2018
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    Fetal heart rate reflects mutation burden and clinical outcome in twin probands with KCNQ1 mutations
  15. 535
    “…The second is the “mutational architecture” of each gene. This describes the type and location of mutations previously identified in the gene, and their association with different phenotypes or degrees of severity. …”
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    Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes
  16. 536
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    Correction: Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes
  17. 537
    “…Testing for founder mutations can facilitate molecular diagnosis of Lynch Syndrome more efficiently and more cost effective than screening for all possible mutations. …”
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    Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation
  18. 538
    por Kaserer, Teresa, Blagg, Julian
    Publicado 2018
    “…The emergence of mutations that confer resistance to molecularly targeted therapeutics is dependent upon the effect of each mutation on drug affinity for the target protein, the clonal fitness of cells harboring the mutation, and the probability that each variant can be generated by DNA codon base mutation. …”
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    Combining Mutational Signatures, Clonal Fitness, and Drug Affinity to Define Drug-Specific Resistance Mutations in Cancer
  19. 539
    “…Driver mutations are the genetic variants responsible for oncogenesis, but how specific somatic mutational events arise in cells remains poorly understood. …”
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    Analysis of 7,815 cancer exomes reveals associations between mutational processes and somatic driver mutations
  20. 540
    “…CONCLUSION: results indicated that missense mutations were the most common mutations in the ARSB gene, most of them being distributed throughout the ARSB gene and restricted to individual families, reflecting consanguineous marriages.…”
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    Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
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