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  1. 2261
    por Connallon, Tim, Jordan, Crispin Y.
    Publicado 2016
    “…Mutation generates a steady supply of genetic variation that, while occasionally useful for adaptation, is more often deleterious for fitness. …”
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    Accumulation of Deleterious Mutations Near Sexually Antagonistic Genes
  2. 2262
    por Yuen, Ryan KC, Merico, Daniele, Cao, Hongzhi, Pellecchia, Giovanna, Alipanahi, Babak, Thiruvahindrapuram, Bhooma, Tong, Xin, Sun, Yuhui, Cao, Dandan, Zhang, Tao, Wu, Xueli, Jin, Xin, Zhou, Ze, Liu, Xiaomin, Nalpathamkalam, Thomas, Walker, Susan, Howe, Jennifer L, Wang, Zhuozhi, MacDonald, Jeffrey R, Chan, Ada JS, D’Abate, Lia, Deneault, Eric, Siu, Michelle T, Tammimies, Kristiina, Uddin, Mohammed, Zarrei, Mehdi, Wang, Mingbang, Li, Yingrui, Wang, Jun, Wang, Jian, Yang, Huanming, Bookman, Matt, Bingham, Jonathan, Gross, Samuel S, Loy, Dion, Pletcher, Mathew, Marshall, Christian R, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Weksberg, Rosanna, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Glazer, David, Frey, Brendan J, Ring, Robert H, Xu, Xun, Scherer, Stephen W
    Publicado 2016
    “…De novo mutations (DNMs) are important in autism spectrum disorder (ASD), but so far analyses have mainly been on the ~1.5% of the genome encoding genes. …”
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    Genome-wide characteristics of de novo mutations in autism
  3. 2263
    por Rossi, Davide, Gaidano, Gianluca
    Publicado 2016
    “…This approach has shown that small subclones harbouring drug resistant mutations anticipate the development of a chemorefractory phenotype. …”
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    The clinical implications of gene mutations in chronic lymphocytic leukaemia
  4. 2264
    “…Disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription, coordinated secondary pathway alterations, and increased transcriptional noise. …”
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    Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer
  5. 2265
    por Pantel, Klaus
    Publicado 2016
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    TP53 mutations on circulating cell-free DNA
  6. 2266
    “…BACKGROUND: While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. …”
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    Prevalence of the CHEK2 R95* germline mutation
  7. 2267
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    Hepatitis E Virus Mutations: Functional and Clinical Relevance
  8. 2268
    “…We identified 55 de novo mutations with a 10-fold enrichment of mutations at CpG sites and with only a modest male mutation bias. …”
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    Direct estimate of the rate of germline mutation in a bird
  9. 2269
    por Fan, Hao, Chu, Jia-You
    Publicado 2007
    “…Strand-slippage replication is the predominant mutation mechanism of STRs, and the stepwise mutation model is regarded as the main mutation model. …”
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    A Brief Review of Short Tandem Repeat Mutation
  10. 2270
    “…We firstly used the targeted exome sequencing (TES) technology to detect mutations in CHM gene. Based on an established filtering strategy of data analyses, along with confirmation by co-segregation, a previously reported mutation (c.1584_1587del TGTT, p.V529Hfs*7) was identified in one family, while two novel mutations (c.227_232delinsTGTCATTTCA, p.Q76Lfs*7; c.710dupA, p.Y237_S238delinsX) were identified in the other two families. …”
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    Novel CHM mutations identified in Chinese families with Choroideremia
  11. 2271
    por Auboeuf, Didier
    Publicado 2016
    “…In this context, cancer is believed to be an evolutionary process where random mutations and the selection process shape the mutational pattern and phenotype of cancer cells. …”
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    Putative RNA-directed adaptive mutations in cancer evolution
  12. 2272
    “…Somatic mutations of many cancer genes tend to co-occur (termed co-mutations) in certain patterns during tumor initiation and progression. …”
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    Chromatin accessibility contributes to simultaneous mutations of cancer genes
  13. 2273
    “…BACKGROUND: De novo mutations are a frequent cause of disorders related to brain development. …”
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    Mutations in HECW2 are associated with intellectual disability and epilepsy
  14. 2274
    “…Six are novel mutations: p.L6S, p.I20F, p.I101Rfs*8, p.F153L, p.R215P, and p.D278V. …”
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    Clinical and biophysical characterization of 19 GJB1 mutations
  15. 2275
    “…Somatic mutations have been extensively characterized in breast cancer, but the effects of these genetic alterations on the proteomic landscape remain poorly understood. …”
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    Proteogenomics connects somatic mutations to signaling in breast cancer
  16. 2276
    por Mott, Martin
    Publicado 1989
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    Malformation, Mutation and Malignancy: The 1987 Long Fox Lecture
  17. 2277
    por Kobori, Shungo, Yokobayashi, Yohei
    Publicado 2016
    “…It was also observed that the structural elements that comprise the ribozyme exhibit distinct sensitivity to mutations.…”
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    High‐Throughput Mutational Analysis of a Twister Ribozyme
  18. 2278
    “…BACKGROUND: The prognostic role of epidermal growth factor receptor (EGFR) mutations in patients with lung adenocarcinomas remains controversial and the association between EGFR mutations and stage at the time of the initial diagnosis is debatable. …”
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    The Association of EGFR Mutations with Stage at Diagnosis in Lung Adenocarcinomas
  19. 2279
    “…We screened pools of DNA samples for mutations in 1-kb segments from 11 different genes, obtaining 17 independent induced mutations from a population of 750 pollen-mutagenized maize plants. …”
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    Discovery of induced point mutations in maize genes by TILLING
  20. 2280
    por Wang, Xiangdong
    Publicado 2016
    “…It is time to explore and develop a strategy to target and correct mutated genes by direct elimination, restoration, correction or repair of mutated sequences/genes. …”
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    Gene mutation‐based and specific therapies in precision medicine
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