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  1. 1501
    por Langabeer, Stephen E.
    Publicado 2020
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    CALR mutations in myeloproliferative neoplasms: An unfolding story
  2. 1502
    por Kauhanen, Henri
    Publicado 2020
    “…This paper proposes to model this phenomenon of sociolinguistic identity maintenance as an evolutionary game in which individuals play the field and the dynamics are supplied by a multi-population extension of the replicator–mutator equation. Using linearization, the stabilities of all dynamic equilibria of the game in its fully symmetric two-population special case are found. …”
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    Replicator–mutator dynamics of linguistic convergence and divergence
  3. 1503
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    Leigh syndrome associated with TRMU gene mutations
  4. 1504
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    Low incidence of EPOR mutations in idiopathic erythrocytosis
  5. 1505
    por Warren, René L., Birol, Inanç
    Publicado 2020
    “…Availability: Mutation time maps are available from https://bcgsc.github.io/SARS2/…”
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    Interactive SARS-COV-2 mutation timemaps
  6. 1506
    por Townsend, Jeffrey P.
    Publicado 2020
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    Getting quantitative on the effects of somatic mutation on cancer
  7. 1507
    “…We describe the enhanced detection of 183 domestication-selective sweeps and the patterns of putative deleterious mutations during domestication and improvement. This predominantly selfing species shows 7.1% reduction of overall deleterious mutations in domesticated soybean relative to wild soybean and a further 1.4% reduction from landrace to improved accessions. …”
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    The patterns of deleterious mutations during the domestication of soybean
  8. 1508
    “…Genomic instability and mutations underlie the hallmarks of cancer—genetic alterations determine cancer cell fate by affecting cell proliferation, apoptosis and immune response, and increasing data show that mutations are involved in metastasis, a crucial event in cancer progression and a life-threatening problem in cancer patients. …”
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    Mutational drivers of cancer cell migration and invasion
  9. 1509
    “…The proposed method uses secure multi-party computation to find disease-causing mutations under specific inheritance models without sacrificing the privacy of individuals. …”
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    Identifying disease-causing mutations with privacy protection
  10. 1510
    “…Our findings show that such correlations among mutational events exist throughout Araceae and support the hypothesis of distribution of oligonucleotide repeats as a proxy for mutational hotspots.…”
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    Mutational Dynamics of Aroid Chloroplast Genomes II
  11. 1511
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    Rimklb mutation causes male infertility in mice
  12. 1512
    “…There was no mutational signature related with PD-L1 expression. …”
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    Mutational signatures in squamous cell carcinoma of the lung
  13. 1513
    “…Most cases of HAE are caused by mutations in the SERPING1 gene encoding C1-inhibitor (C1-INH-HAE); however, mutation analysis identified seven further types of HAE: HAE with Factor XII mutation (FXII-HAE), with plasminogen gene mutation (PLG-HAE), with angiopoietin-1 gene mutation (ANGPT1-HAE), with kininogen-1 gene mutation (KNG1-HAE), with a myoferlin gene mutation (MYOF-HAE), with a heparan sulfate-glucosamine 3-sulfotransferase 6 (HS3ST6) mutation, and hereditary angioedema of unknown origin (U-HAE). …”
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    Screening for Plasminogen Mutations in Hereditary Angioedema Patients
  14. 1514
    por Ochi, Yotaro, Ogawa, Seishi
    Publicado 2021
    “…Indeed, the presence of multiple CS-mutations is a stronger indicator of CS-AML than a single mutation. …”
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    Chromatin-Spliceosome Mutations in Acute Myeloid Leukemia
  15. 1515
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    Mutational and biophysical robustness in a prestabilized monobody
  16. 1516
    por Bailey, Matthew H., Tokheim, Collin, Porta-Pardo, Eduard, Sengupta, Sohini, Bertrand, Denis, Weerasinghe, Amila, Colaprico, Antonio, Wendl, Michael C., Kim, Jaegil, Reardon, Brendan, Ng, Patrick Kwok-Shing, Jeong, Kang Jin, Cao, Song, Wang, Zixing, Gao, Jianjiong, Gao, Qingsong, Wang, Fang, Liu, Eric Minwei, Mularoni, Loris, Rubio-Perez, Carlota, Nagarajan, Niranjan, Cortés-Ciriano, Isidro, Zhou, Daniel Cui, Liang, Wen-Wei, Hess, Julian M., Yellapantula, Venkata D., Tamborero, David, Gonzalez-Perez, Abel, Suphavilai, Chayaporn, Ko, Jia Yu, Khurana, Ekta, Park, Peter J., Van Allen, Eliezer M., Liang, Han, Lawrence, Michael S., Godzik, Adam, Lopez-Bigas, Nuria, Stuart, Josh, Wheeler, David, Getz, Gad, Chen, Ken, Lazar, Alexander J., Mills, Gordon B., Karchin, Rachel, Ding, Li
    Publicado 2018
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    Comprehensive Characterization of Cancer Driver Genes and Mutations
  17. 1517
    “…We develop a bioinformatics tool called HotPho and systematically discover 3D co-clustering of phosphosites and cancer mutations on protein structures. HotPho identifies 474 such hybrid clusters containing 1255 co-clustering phosphosites, including RET p.S904/Y928, the conserved HRAS/KRAS p.Y96, and IDH1 p.Y139/IDH2 p.Y179 that are adjacent to recurrent mutations on protein structures not found by linear proximity approaches. …”
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    Spatially interacting phosphorylation sites and mutations in cancer
  18. 1518
    “…BACKGROUND: Osteosarcoma (OTS) is aggressive bone malignancy without well-recognized prognosis biomarker. Tumor mutational burden (TMB) has been proved as effective biomarker in predicting clinical outcomes in several cancer types. …”
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    The Clinical Implications of Tumor Mutational Burden in Osteosarcoma
  19. 1519
    por Echave, Julian
    Publicado 2021
    “…In single mutation-response scanning simulations, a sensitivity matrix is obtained by averaging deformations over point mutations. …”
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    Fast computational mutation-response scanning of proteins
  20. 1520
    “…This study is aimed at searching the possible genetic mutations and the value of novel gene mutation in the DNA damage-inducible transcript 4 (DDIT4) and signaling pathway in pancreatic cancer. …”
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    DDIT4 Novel Mutations in Pancreatic Cancer
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