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Mostrando 141 - 160 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.51s Limitar resultados
  1. 141
    “…Activating mutations in PIK3CA were identified exclusively in GBC (4/32, 12.5%). …”
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    Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma
  2. 142
    “…To identify the disease causing mutation in this family, we performed mutational analysis based on candidate gene sequencing. …”
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    A DSPP Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect
  3. 143
    “…Heterogeneity with respect to BRAF mutation in different metastases has been described in single cases. …”
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    Mutation landscape in melanoma patients clinical implications of heterogeneity of BRAF mutations
  4. 144
    “…BACKGROUND: Familial hypercholesterolemia (FH) is a human monogenic disease induced by a variety of mutations with striking genetic diversity. Despite this variability recurrent mutations occur in each population studied, which allows both elucidating prevalent mutations and developing DNA diagnostic tools for the disease. …”
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    Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum
  5. 145
    “…Signatures of mutagenesis provide a powerful tool for dissecting the role of somatic mutations in both normal and pathological processes. …”
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    Exploring the implications of distinct mutational signatures and mutation rates in aging and cancer
  6. 146
    “…Importantly, we did not see a strict pattern of genes always mutated in older age but rather an accumulation of mutations in the same pathways. …”
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    Mutational load and mutational patterns in relation to age in head and neck cancer
  7. 147
    “…Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). …”
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    Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
  8. 148
    “…However, links between specific mutation-causing processes and the acquisition of individual driver mutations have remained obscure. …”
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    The effects of mutational processes and selection on driver mutations across cancer types
  9. 149
    “…RESULTS: In general, ten mutations were identified in 27 CF cases. Two out of 10 mutations, 754delT and GGTGGCdel/TTGins, were reported as novel mutations. …”
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    CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations
  10. 150
    “…Mutations create novel genetic variants, but their contribution to variation in fitness and other phenotypes may depend on environmental conditions. …”
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    Quantifying natural seasonal variation in mutation parameters with mutation accumulation lines
  11. 151
    “…By integrating these data with the COSMIC mutational signatures database(9,10), we developed a statistical model that describes the TP53 mutational spectrum as a function of the baseline probability of acquiring each mutation and the fitness advantage conferred by attenuation of p53 activity. …”
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    Mutational processes shape the landscape of TP53 mutations in human cancer
  12. 152
    “…Sanger sequencing was used to detect IDH/TERTp mutations. Chi-square test was performed to determine if the IDH/TERTp mutations were associated with seizures and seizure types. …”
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    IDH mutations but not TERTp mutations are associated with seizures in lower-grade gliomas
  13. 153
    “…Identifying driver mutations in cancer is notoriously difficult. To date, recurrence of a mutation in patients remains one of the most reliable markers of mutation driver status. …”
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    Finding driver mutations in cancer: Elucidating the role of background mutational processes
  14. 154
    “…However, relatively little research has specifically delineated the functionality of synonymous mutations in cancer. RESULTS: We investigated the nucleotide-based and amino acid-based features of synonymous mutations across 15 cancer types from The Cancer Genome Atlas (TCGA), and revealed novel driver candidates by identifying hotspot mutations. …”
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    An analysis of mutational signatures of synonymous mutations across 15 cancer types
  15. 155
    “…SIMPLE SUMMARY: Colorectal cancer with a mutation in an oncogene BRAF has paid much attention, as it comprises a population with dismal prognosis since two decades ago. …”
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    BRAF Mutation in Colorectal Cancers: From Prognostic Marker to Targetable Mutation
  16. 156
    por Kühl, M A, Stich, B, Ries, D C
    Publicado 2020
    “…Its intuitive system for fine-grained control over mutation rates along the sequence enables the mimicking of natural mutation patterns. …”
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    Mutation-Simulator: fine-grained simulation of random mutations in any genome
  17. 157
    “…Direct sequencing demonstrated a single homozygous nucleotide substitution G > A in exon 6, predicting a novel missense mutation Cys164Tyr. Three members of the family were found to be heterozygous carriers of this mutation. …”
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    Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization
  18. 158
    “…We find that two particular mutation rates, G →U and C →U, are similarly elevated and considerably higher than all other mutation rates, causing the majority of mutations in the SARS-CoV-2 genome, and are possibly the result of APOBEC and ROS activity. …”
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    Mutation Rates and Selection on Synonymous Mutations in SARS-CoV-2
  19. 159
    “…Our results indicated that EGFR mutations are rare in GISTs. Further research is needed to sequence whole coding regions of the gene to investigate new actionable mutations in EGFR in an increased sample size.…”
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    Mutation Status and Immunohistochemical Correlation of EGFR Mutations in Gastrointestinal Stromal Tumors
  20. 160
    “…Acquired somatic mutations are crucial for the development of most cancers. …”
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    Mutational patterns and their correlation to CHIP-related mutations and age in hematological malignancies
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