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  1. 2781
    “…We compared the time taken for 10-times fast repetitions of two meaningful Persian words and the tri-syllabic nonsense word /pa-ta-ka/. Praat software was used to calculate the average time that subjects took to produce the target items. …”
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    Meaningful Words and Non-Words Repetitive Articulatory Rate (Oral Diadochokinesis) in Persian Speaking Children
  2. 2782
    “…METHODS: A total of 199 in silico coding region mutations (missense, nonsense, insert, deletion, indel) were made in hRHO mRNA based on Human Gene Mutation Database and Database of Single Nucleotide Polymorphisms. …”
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    Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme
  3. 2783
    “…Here we show that most CTCF mutations effectively result in CTCF haploinsufficiency through nonsense-mediated decay of mutant transcripts, or loss-of-function missense mutation. …”
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    CTCF genetic alterations in endometrial carcinoma are pro-tumorigenic
  4. 2784
    “…Four different RUNX2 mutations were detected in these patients, including one nonsense mutation (c.199C>T p.Q67X) and three missense mutations (c.338T>G p.L113R, c.557G>C p.R186T and c.673C>T p.R225W). …”
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    Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia
  5. 2785
    “…Breast cancer-associated CCDC170 nonsense mutations and rearrangements have also been detected, with the latter being specifically implicated in driving breast cancer. …”
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    The Protein Encoded by the CCDC170 Breast Cancer Gene Functions to Organize the Golgi-Microtubule Network
  6. 2786
    “…RESULTS: The spectrum of identified mutations contained exon deletions (61%), exon duplications (13%), nonsense mutations (13%), small deletions (5%), small insertions (3%), splice-site mutations (4%), and missense mutations (1%). …”
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    Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
  7. 2787
    “…Gene knockouts affecting the Ctf19 kinetochore complex were identified as the strongest enhancers of bir1-17, while mutations affecting the large ribosomal subunit or the mRNA nonsense-mediated decay pathway caused strong phenotypic suppression. …”
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    A Functional Link Between Bir1 and the Saccharomyces cerevisiae Ctf19 Kinetochore Complex Revealed Through Quantitative Fitness Analysis
  8. 2788
    “…We identified heterozygous nonsense mutations in four and potentially disease-causing missense variants in two families (1.4%). …”
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    Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
  9. 2789
    “…In addition, shared requirement of U34 modifications for nonsense and missense tRNA suppression (SUP4; SOE1) strongly suggests that Kti12 and Elongator cooperate to assure proper tRNA functioning. …”
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    Use of a Yeast tRNase Killer Toxin to Diagnose Kti12 Motifs Required for tRNA Modification by Elongator
  10. 2790
    “…We linked stl64 to chromosome 1 and identified a candidate nonsense mutation in the F-box and WD repeat domain containing 7 (fbxw7) gene. …”
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    Whole Genome Sequencing-Based Mapping and Candidate Identification of Mutations from Fixed Zebrafish Tissue
  11. 2791
    “…Furthermore, we demonstrate that this mechanism is disrupted in congenital muscular dystrophy patient myotubes carrying a nonsense mutation within the SYNE1 gene (23560 G>T) encoding Nesprin-1 [15, 16]. …”
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    Nesprin-1α-Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells
  12. 2792
    “…In most cases (56/60; 93.3%), the nonhemolytic phenotype resulted from nonsense, missense, or frameshift mutations in prfA. …”
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    Spontaneous Loss of Virulence in Natural Populations of Listeria monocytogenes
  13. 2793
    “…RESULTS: We identified a heterozygous nonsense mutation in a subunit of RNA polymerase II (POLR2C) that synthesizes messenger RNA. …”
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    POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women
  14. 2794
    “…Twenty-two somatic nonsynonymous changes were identified as putative pathogenic variants, including 4 truncating mutations produced by three frameshifts (MT-ATP6 8628 insC; MT-ND5 13475 T-del, and MT-CYB 14984 insA) and 1 nonsense mutation in MT-CO3 9253 G>A. Among the somatic variants, only m.13676 A>G (MT-ND5), found in only 1 tumor, was heteroplasmic. …”
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    Mitochondrial DNA depletion, mitochondrial mutations and high TFAM expression in hepatocellular carcinoma
  15. 2795
    “…This is the first report of a nonsense EDAR mutation leading to NSTA.…”
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    Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis
  16. 2796
    “…One additional case revealed a de novo nonsense mutation in a novel candidate gene (MAP4K4). …”
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    Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges
  17. 2797
    “…In the 11 analyzed subjects, two novel heterozygous nonsense mutations were detected [c.2106 T>G (p.Y702X) and c.2779-2780 GC>A]. …”
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    Hyperinsulinemia and Insulin Receptor Gene Mutation in Nonobese Healthy Subjects in Japan
  18. 2798
    “…In addition, a somatic mutation in the VHL gene—a nonsense mutation, c.529A>T, p.Arg177Ter—was identified by hybrid capture sequencing. …”
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    Somatic VHL Mutation in a Patient With MEN1-Associated Metastatic Pancreatic Neuroendocrine Tumor Responding to Sunitinib Treatment: A Case Report
  19. 2799
    “…Exome sequencing, confirmed by Sanger sequencing, identified a novel nonsense mutation in ACAN (c.4852C>T: p.Q1618X), which cosegregated with the phenotype. …”
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    Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
  20. 2800
    “…VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants. …”
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    First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
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