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Mutation sexuelle, mutation de langage
Published 2016-11-01Subjects: “…mutation…”
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Are There Mutator Polymerases?
Published 2003-01-01“…The current view of these processes is reviewed, and the current understanding of DNA polymerases and their role as mutator enzymes is discussed.…”
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Mutations and pemanences in ancient Palermo
Published 2017-06-01“…The analysis is aimed at new urban scenarios, at footprints, at signs and at mutations created by a settlement process that involves new residents and their resources, in a field that has all the potential to return to Palermo its role as an international capital, with a view to integrating, welcoming, renewal and enhancing the enormous multicultural wealth accumulated in centuries of history.…”
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Dynamics of stochastic mutation to immunodominance
Published 2012-09-01Subjects: Get full text
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The mutation atlas of giant kelp (Macrocystis pyrifera): a mutation database resource for natural knockouts
Published 2025-01-01Subjects: Get full text
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Mutation and Chaos in Nonlinear Models of Heredity
Published 2014-01-01“…We consider a Mendelian inheritance for a single gene with three alleles and assume that to form a new generation, each gene has a possibility to mutate, that is, to change into a gene of the other kind. …”
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Mutation Testing Approach to Negative Testing
Published 2016-01-01“…This paper presents a mutation testing-based approach for generation of test cases supporting negative testing. …”
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EIF1AX mutation in thyroid tumors: a retrospective analysis of cytology, histopathology and co-mutation profiles
Published 2022-11-01“…Abstract Background The EIF1AX mutation has been identified in various benign and malignant thyroid lesions, with a higher prevalence in poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma, especially when combined with RAS or TP53 mutation. …”
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Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes
Published 2020-01-01“…ARAP3 is a small GTPase-activating protein regulator, which has important functions in lymphatic vessel organogenesis and modulation of cell adhesion and migration. Mutations in the ARAP3 gene are associated with impaired lymphatic vessel formation. …”
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Do Not Be Fooled by Fancy Mutations: Inflammatory Fibroid Polyps Can Harbor Mutations Similar to Those Found in GIST
Published 2013-01-01“…This study includes two patients that had polyps removed from the ileum, and an extended investigation was performed with immunohistochemical staining and mutation analyses. Results. The tumors did not show typical immunohistochemical staining for markers used to diagnose GIST, but the mutation analysis revealed a mutation in PDGFRA exon 12. …”
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Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome
Published 2019-01-01“…The aims of this study were to examine novel mutations in PITX2 and FOXC1 in Chinese patients with anterior segment dysgenesis (ASD) and to compare the clinical presentations of these mutations with previously reported associated phenotypes. …”
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Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS
Published 2025-01-01“…We found a novel missense mutation (p.Thr355Ile) in the RUNX2 gene in one patient and heterozygous mutations in the MAPK14 gene (c.306_5delT and c.*8G > T) in another patient with PCOS. …”
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Subthreshold coexistence of strains: the impact of vaccination and mutation
Published 2007-01-01Subjects: Get full text
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Methylmalonic Acidemia with Novel MUT Gene Mutations
Published 2017-01-01“…With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.…”
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The mutational landscape of Staphylococcus aureus during colonisation
Published 2025-01-01“…Here we applied a genome-wide mutation enrichment approach to a genomic dataset of 3060 S. aureus colonization isolates from 791 individuals. …”
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