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  1. 2501
    “…To date, two independent mutations have been described in horses and associated with this disorder, a point mutation (c.122G > C) and a 10-base-pair deletion (g.1456_1466del) in the Integrin subunit alpha2β gene (ITGA2B) of horses of different breeds (Quarter Horse, Thoroughbred, Oldenburg, and Peruvian Paso). …”
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    Prevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil
  2. 2502
    “…CONCLUSION: Occurrence of Acute myocardial infarction in patient with coronary artery ectasia after diarrhea is a very rare condition and involvement of KCNH1 gene mutation which is described in this case report.…”
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    Is KCNH1 mutation related to coronary artery ectasia
  3. 2503
    “…Here we apply next-generation sequencing to adenomyosis (70 individuals and 192 multi-regional samples), as well as co-occurring leiomyoma and endometriosis, and find recurring KRAS mutations in 26/70 (37.1%) of adenomyosis cases. Multi-regional sequencing reveals oligoclonality in adenomyosis, with some mutations also detected in normal endometrium and/or co-occurring endometriosis. …”
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    Uterine adenomyosis is an oligoclonal disorder associated with KRAS mutations
  4. 2504
    “…PURPOSE: To describe the mutation spectrum of SPATA7 and associated ocular phenotypes. …”
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    Spectrum, frequency, and genotype–phenotype of mutations in SPATA7
  5. 2505
    “…We discuss how genotype-specific mutation rates and spectra, in conjunction with evolutionary forces, can shape both the differential accumulation of repeat content in the genome and the evolution of mutation rates.…”
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    Intraspecific Variation in Microsatellite Mutation Profiles in Daphnia magna
  6. 2506
    por Alberts, Rudi, Chen, Jinyu, Zhang, Louxin
    Publicado 2019
    “…BACKGROUND: Inference of cancer-causing genes and their biological functions are crucial but challenging due to the heterogeneity of somatic mutations. The heterogeneity of somatic mutations reveals that only a handful of oncogenes mutate frequently and a number of cancer-causing genes mutate rarely. …”
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    ZDOG: zooming in on dominating genes with mutations in cancer pathways
  7. 2507
    “…Seven genotypes of α-thalassemia mutations and 29 genotypes of β-thalassemia mutations were characterized. …”
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    Alpha and beta-Thalassemia mutations in Hubei area of China
  8. 2508
    “…Additional studies are needed to identify a potential broader tumor spectrum associated with germline GPR161 mutations.…”
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    Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma
  9. 2509
    “…Using Sanger sequencing of the candidate genes, we identified two novel mutations: a missense mutation c.572 T>C and a frameshift mutation c.590_594 dup TGTCC, which were both detected in the homeodomain of MSX1. …”
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    Two novel mutations in MSX1 causing oligodontia
  10. 2510
    “…Succinate dehydrogenase (SDH) mutations lead to the accumulation of succinate, which acts as an oncometabolite. …”
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    Clinical implications of the oncometabolite succinate in SDHx‐mutation carriers
  11. 2511
    “…BCNS is mainly caused by mutations in PTCH1, an onco‐suppressor gene that maps at 9q22.3 region. …”
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    Unexpected phenotype in a frameshift mutation of PTCH1
  12. 2512
    “…BACKGROUND: GBA mutation carriers with PD (PD-GBA) are at higher risk of cognitive decline, but there is limited data regarding whether there are differences in gait dysfunction between GBA mutation and non-mutation carriers with PD. …”
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    Gait asymmetry in glucocerebrosidase mutation carriers with Parkinson’s disease
  13. 2513
    “…Derivation from B cells with very low or no IGV mutations generally leads to a more aggressive disease course than derivation from B cells with higher levels. …”
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    Celebrating 20 Years of IGHV Mutation Analysis in CLL
  14. 2514
    “…Elevated hypoxia associates with increased mutational load across cancer types, irrespective of underlying mutational class. …”
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    Divergent mutational processes distinguish hypoxic and normoxic tumours
  15. 2515
    “…For the (1+1) EA using standard bit mutation (SBM) it is well known that OneMax is an easiest function with unique optimum while Trap is a hardest. …”
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    On Easiest Functions for Mutation Operators in Bio-Inspired Optimisation
  16. 2516
    “…Readthrough therapy relies on the use of small molecules that enable premature termination codons in mRNA open reading frames to be misinterpreted by the translation machinery, thus allowing the generation of full-length, potentially functional proteins from mRNA carrying nonsense mutations. In patients with hemophilia A, nonsense mutations potentially sensitive to readthrough agents represent approximately 16% of the point mutations. …”
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    Variable readthrough responsiveness of nonsense mutations in hemophilia A
  17. 2517
    “…The aim of this review is to comprehensively integrate all reported PTMs of TRPCs, to discuss their physiological/pathophysiological roles if available, and to summarize diseases linked to the natural mutations of TRPCs.…”
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    Post-Translational Modification and Natural Mutation of TRPC Channels
  18. 2518
    por Kivisaar, Maia
    Publicado 2019
    “…Bacteria evolve as a result of mutations and acquisition of foreign DNA by recombination processes. …”
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    Mutation and Recombination Rates Vary Across Bacterial Chromosome
  19. 2519
    por Sandford, Andrew J.
    Publicado 2020
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    Alpha-1 Antitrypsin Mutations: Is One Too Many?
  20. 2520
    “…However, efforts to repurpose ribosomes are limited by the lack of complete peptidyl transferase center (PTC) active site mutational analyses to inform design. To address this limitation, we leverage an in vitro ribosome synthesis platform to build and test every possible single nucleotide mutation within the PTC-ring, A-loop and P-loop, 180 total point mutations. …”
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    Mutational characterization and mapping of the 70S ribosome active site
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