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Urticaria unveiled in hereditary angioedema with carboxypeptidase N mutation
Published 2025-05-01Get full text
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Impact of NRAS Mutations on the Diagnosis of Follicular Neoplasm of the Thyroid
Published 2014-01-01“…Most patients with a preoperative diagnosis of thyroid follicular neoplasm (FN) undergo diagnostic surgery to determine whether the nodule is benign or malignant. Point mutations at NRAS codon 61 are the most common mutations observed in FN. …”
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Orders of Magnitude Change in Phenotype Rate Caused by Mutation
Published 2007-01-01Get full text
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45
Orders of Magnitude Change in Phenotype Rate Caused by Mutation
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46
Nonfamilial, MPL S505N-Mutated Essential Thrombocythaemia
Published 2013-01-01“…Another exon 10 mutation, MPL S505N, has been shown to be a founder mutation in several pedigrees with familial thrombocythaemia where it is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis. …”
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Multipyrene Tandem Probes for Point Mutations Detection in DNA
Published 2013-01-01“…Here we report design, synthesis and characterization of highly sensitive, specific and stable in biological systems fluorescent probes for point mutation detection in DNA. The tandems of 3′- and 5′-mono- and bis-pyrene conjugated oligo(2′-O-methylribonucleotides), protected by 3′-“inverted” thymidine, were constructed and their potential as new instruments for genetic diagnostics was studied. …”
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Bifurcation Analysis of Three-Strategy Imitative Dynamics with Mutations
Published 2019-01-01“…This paper focuses on the Hopf bifurcation in imitative dynamics of three strategies (Rock-Paper-Scissors) with mutations. First, we verify that there is a Hopf bifurcation in the imitative dynamics with no mutation. …”
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Comparison between stochastic and deterministic selection-mutation models
Published 2007-01-01Subjects: Get full text
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p53 Mutations and DNA Ploidy in Colorectal Adenocarcinomas
Published 1998-01-01“…The p53 tumour suppressor gene has an important role in the the maintenance of genome stability and its mutational inactivation may be at the origin of aneuploidy in cancer cells. …”
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Insecticide resistance mutations of Anopheles species in the Republic of Korea.
Published 2025-01-01“…This study represents a preliminary investigation of insecticide resistance mutations across all Anopheles species in the ROK. …”
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A Burning Desire to Understand Genetic Mutations in Gastroenterology
Published 2006-01-01Get full text
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Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy
Published 2016-01-01“…To date, over 1400 mutations have been linked to HCM, mostly in genes encoding for sarcomeric proteins. …”
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Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy
Published 2025-01-01Subjects: Get full text
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Fuzzy logic applied to tunning mutation size in evolutionary algorithms
Published 2025-01-01“…The paper discusses the new, based on the Fuzzy Logic concept of tuning mutation size in these algorithms. Data on evolution collected in prior generations are used to tune the size of mutations. …”
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A simple model of carcinogenic mutations with time delay and diffusion
Published 2013-03-01Subjects: Get full text
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Isocitrate Dehydrogenase 1 and 2 Mutations in Pediatric Neuroblastoma Patients
Published 2023-06-01Subjects: “…isocitrate dehydrogenase mutation…”
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Leveraging Quantum LSTM for High-Accuracy Prediction of Viral Mutations
Published 2025-01-01Subjects: Get full text
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Investigation of Chlorophyll Mutations in Gamma Irradiated Naked Barley Genotypes
Published 2023-12-01Subjects: “…chlorophyll mutations…”
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Mutations in human prion-like domains: pathogenic but not always amyloidogenic
Published 2024-12-01“…In this review, we discuss the structural features of these amyloid assemblies, placing particular emphasis on scrutinizing the impact of prevalent disease-associated mutations mapping within their LCDs. By performing systematic energy calculations, we reveal a prevailing trend of destabilizing effects induced by these mutations in the amyloid structure, challenging the traditionally assumed correlation between pathogenicity and amyloidogenic propensity. …”
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