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  1. 1961
    “…In optimized populations, most mutations have deleterious effects, such that low mutation rates are favoured. …”
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    Variable Mutation Rates as an Adaptive Strategy in Replicator Populations
  2. 1962
    “…Adaptation in eukaryotes is generally assumed to be mutation-limited because of small effective population sizes. …”
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    Evidence that Adaptation in Drosophila Is Not Limited by Mutation at Single Sites
  3. 1963
    “…These results suggest that evolutionary protein adaptation may use, in some cases at least, the potential of conservative mutations to originate a multiplicity of evolutionarily allowed mutational paths leading to a variety of protein modulation patterns. …”
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    Role of conservative mutations in protein multi-property adaptation
  4. 1964
    “…Optineurin is one of the candidate genes identified so far. A mutation of Glu(50) to Lys (E50K) has been reported to be associated with a more progressive and severe disease. …”
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    Impairment of Protein Trafficking upon Overexpression and Mutation of Optineurin
  5. 1965
    “…We have previously identified three disease-causing mutations out of 174 RP patients. In this study, we investigated a new cohort of Chinese RP patients to further evaluate the contribution of RP1 mutations to cause RP. …”
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    Differential pattern of RP1 mutations in retinitis pigmentosa
  6. 1966
    “…Genome-wide association studies (GWAS) often identify disease-associated mutations in intergenic and non-coding regions of the genome. …”
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    Disease-Associated Mutations That Alter the RNA Structural Ensemble
  7. 1967
    “…BACKGROUND: The interplay between transcription and mutational processes can lead to particular mutation patterns in transcribed regions of the genome. …”
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    The evolution of transcription-associated biases of mutations across vertebrates
  8. 1968
    por Wang, Grace, Kelley, Robin K., GAPPNet
    Publicado 2010
    “…KRAS mutational analysis is a genetic test used in clinical practice for determining the status of the KRAS gene (wild type or mutant) in tumors from patients with metastatic colorectal cancer (CRC). …”
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    KRAS mutational analysis for colorectal cancer: Application: Pharmacogenomic
  9. 1969
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    Mutational and Bioinformatic Analysis of Haloarchaeal Lipobox-Containing Proteins
  10. 1970
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    Mutational Tuning of Galectin-3 Specificity and Biological Function
  11. 1971
    “…Mutations in CLDN14, encoding tight junction protein claudin 14, cause profound deafness in mice and humans. …”
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    Mutations in CLDN14 are associated with different hearing thresholds
  12. 1972
    “…Pheochromocytomas with TMEM127 mutations are transcriptionally related to NF1-mutant tumors and, similarly, show hyperphosphorylation of mTOR targets. …”
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    Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
  13. 1973
    “…BACKGROUND: Mutation impact extraction is a hitherto unaccomplished task in state of the art mutation extraction systems. …”
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    Algorithms and semantic infrastructure for mutation impact extraction and grounding
  14. 1974
    “…BACKGROUND AND OBJECTIVE: The long-QT syndrome (LQTS) is associated with premature sudden cardiac deaths affecting whole families and is caused by mutations in genes encoding for cardiac proteins. When the same mutation is found in different families (recurrent mutations), this may imply either a common ancestor (founder) or multiple de novo mutations. …”
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    Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome
  15. 1975
    por Mogi, Akira, Kuwano, Hiroyuki
    Publicado 2011
    “…The tumor suppressor gene TP53 is frequently mutated in human cancers. Abnormality of the TP53 gene is one of the most significant events in lung cancers and plays an important role in the tumorigenesis of lung epithelial cells. …”
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    TP53 Mutations in Nonsmall Cell Lung Cancer
  16. 1976
    “…BACKGROUND: FMS-like tyrosine kinase 3 (FLT3) is a commonly mutated protein in a variety of human acute leukemias. …”
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    FLT3 mutations in canine acute lymphocytic leukemia
  17. 1977
    “…To date, large-scale sequencing analyses have revealed hundreds of mutations in human tumors. However, without their functional validation it remains unclear which mutations correspond to driver, or rather bystander, mutations and, therefore, whether the mutated gene represents a target for therapeutic intervention. …”
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    Functional Characterization of Human Cancer-Derived TRKB Mutations
  18. 1978
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    IDH1 mutations in a Brazilian series of Glioblastoma
  19. 1979
    “…Epistasis (i.e. non-additive interaction between mutations that affect fitness) is a mechanism that can contribute to both scenarios. …”
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    Initial Mutations Direct Alternative Pathways of Protein Evolution
  20. 1980
    “…Sequence analysis reveals mutations at several sequence positions in the toxin across serogroups. …”
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    Structural inferences for Cholera toxin mutations in Vibrio cholerae
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