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  1. 3781
    “…Cancer genomes are characterized by 219 somatic single-nucleotide variants (181 missense, 9 nonsense, 7 splice-site) and 22 frameshift insertions/deletions, with a median of 2.1 mutations per Mb (0 to 12.4 mutations per Mb). …”
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    Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus
  2. 3782
    “…Of these polymorphisms, four were missense substitutions (V1822D, V1173G, P1760H and K2057), one was a nonsense substitution (S1196X), and six were silent substitutions (Y486Y, T449T, T1493T, G1678G, S1756S and P1960P). …”
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    Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients
  3. 3783
    “…Affected females with missense mutations showed a similar disease burden compared to females with nonsense mutations. Elevated plasma lyso-Gb3 levels in ERT-naïve females seem to be a marker of disease burden, since patients showed comparable incidences of organ manifestations even if they were ~8 years younger than females with normal lyso-Gb3 levels. …”
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    Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease
  4. 3784
    “…These mutations consist of a previously reported splicing defect c.470+1G>A in MYO7A, three novel variants, including two nonsense (p.Arg3X and p.Arg134X) in USH1C and PCDH15, respectively, and one frameshift (p.Lys615Asnfs*6) in MYO7A. …”
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    Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis
  5. 3785
    por Wu, Mu-Lu, Chan, Chuu Ling, Dick, Thomas
    Publicado 2016
    “…Here, we disrupted Rel function by generating two types of mutant M. smegmatis strains: a rel nonsense mutant (rel(E4TAG)) in which translation is prematurely terminated at codon 4, and a rel deletion mutant (Δrel) in which the entire coding sequence was deleted. …”
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    Rel Is Required for Morphogenesis of Resting Cells in Mycobacterium smegmatis
  6. 3786
    “…Treatment of cultured SF3B1-mutant MDS erythroblasts and a CRISPR/Cas9-generated SF3B1-mutant cell line with the nonsense-mediated decay (NMD) inhibitor cycloheximide showed that the aberrantly spliced ABCB7 transcript is targeted by NMD. …”
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    Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes
  7. 3787
    “…One variant, V1, resulted in a premature stop codon and thus likely led to nonsense mediated decay. Interestingly, another transcript variant, V2, was not detected in normal breast tissue samples. …”
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    Identification of Claudin 1 Transcript Variants in Human Invasive Breast Cancer
  8. 3788
    “…Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed with locally advanced breast cancer. …”
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    Prevalence of the CHEK2 R95* germline mutation
  9. 3789
    “…To date, 24 different EGLN1 mutations comprising missense, frameshift, and nonsense mutations have been described. The phenotypes associated with the patients carrying these mutations are fairly homogeneous and typically limited to erythrocytosis with normal to elevated EPO. …”
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    The role of PHD2 mutations in the pathogenesis of erythrocytosis
  10. 3790
    “…A total of 543 somatic single-nucleotide variants (498 missense, 13 nonsense) and 32 frameshift insertions/deletions, with a median of 3 mutations per sample. …”
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    Targeted sequencing identifies genetic alterations that confer primary resistance to EGFR tyrosine kinase inhibitor (Korean Lung Cancer Consortium)
  11. 3791
    “…We examined rare missense, nonsense, splice-altering, and coding indels matching an autosomal dominant inheritance model. …”
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    Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study
  12. 3792
    “…Fourteen (14) mutations were found: 6 missense (42.9%), 4 nonsense (28.6%), 2 frameshift (14.3%), 1 exon skipping at the cDNA level (7.1%), and 1 gross insertion (7.1%). …”
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    Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
  13. 3793
    “…Allele frequencies of pathogenic variants in ClinVar, as well as variants expected to be pathogenic through the nonsense-mediated decay (NMD) pathway, were analyzed to study the burden of pathogenic variants in 79 genes of clinical importance. …”
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    Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
  14. 3794
    por El-Sabrout, Karim, Aggag, Sarah A.
    Publicado 2017
    “…Furthermore, we detected the following SNPs variation between the two lines: A SNP (T-C) at nucleotide 27 was identified by MC4R gene (sense mutation) and another one (A-C) at nucleotide 14 was identified by GHR gene (nonsense mutation) of Alexandria line. The results of individual BW at market (63 days) indicated that Alexandria rabbits had significantly higher BW compared with V-line rabbits. …”
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    Associations between single nucleotide polymorphisms in multiple candidate genes and body weight in rabbits
  15. 3795
    “…Cys146Phe) and a novel nonsense mutation c.466C > T (p. Arg156Ter), both in homozygous forms, were found. …”
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    Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss
  16. 3796
    “…Examining other types of small RNAs [sn/snoRNAs, mt_rRNA, miscRNA, nonsense mediated decay (NMD), and rRNAs] identified 15 sncRNAs in the tumor vs benign group and 104 in the metastasis vs benign group, with only four others being commonly expressed. …”
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    Exploration of small RNA-seq data for small non-coding RNAs in Human Colorectal Cancer
  17. 3797
    “…A comparison of the clinical manifestations caused by different types of mutations in COL4A5 suggested that nonsense mutations and glycine substitution by an acidic amino acid are more severe than the other missense mutations. …”
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    Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
  18. 3798
    “…Overall, sequencing screening allowed identification of six different point variants (three nonsense and three missense changes) and two coding indels, one of them found in two unrelated patients. …”
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    Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
  19. 3799
    “…These included five nonsense, two frameshift, three splicing, one missense, and one multi-exon deletion mutations, and two initiation codon variants. …”
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    Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
  20. 3800
    “…All NBAS mutations were novel and predictedly pathogenic (frameshift insertion mutation c.6611_6612insCA, missense mutations c.2407G > A and c.3596G > A, nonsense mutation c.586C > T, and splicing-site mutation c.5389 + 1G > T). …”
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    Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study
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