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  1. 3441
    “…Point mutations are the most common, with the majority being missense or nonsense mutations. In addition, approximately 15% of disease-causing ATP8B1 mutations are annotated as splicing disrupting alteration given that they are located at exon-intron borders. …”
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    In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene
  2. 3442
    “…Patient 3 (P3) contained a heterozygous variant (c.2126+5G>A), P6 contained a homozygous nonsense mutation (c.1720C>T, p.Arg574(*)), P8 contained compound heterozygous variants (c.1182-1184delATC, p.Leu394_Ser395delinsPhe; c.368A>T, p.His123Arg), and P9 contained a heterozygous variant (c.1182-1184delATCTT, frameshift). …”
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    Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility
  3. 3443
    “…We infer that the EDMD1 phenotype may be strengthened by the toxicity of truncated emerin expressed in patients with certain nonsense mutations in EMD.…”
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    Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients
  4. 3444
    “…These include a variant in the start codon, frame-shift/insertions, frame-shift/deletions, nonsense variants, and variants affecting splicing. …”
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    Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia
  5. 3445
    “…Four unrelated families shared the same nonsense variant, c.148C>T (p.Arg50*), whereas the other families had a missense variant, c.185T>G (p.Ile62Ser) or c.191T>G (p.Met64Arg). …”
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    Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
  6. 3446
    “…Genes were considered to be positive for mutation according to the presence of an in-frame/frameshift deletion or insertion, missense/nonsense mutation, or multi-hit mutation. RESULTS: During a median follow-up period of 66.2 months, there was only one case of MCRCC recurrence among all 30 patients. …”
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    SETD2, GIGYF2, FGFR3, BCR, KMT2C, and TSC2 as candidate genes for differentiating multilocular cystic renal neoplasm of low malignant potential from clear cell renal cell carcinoma with cystic change
  7. 3447
    “…Ten previously unreported mutations were identified, including four missense mutations; c.1142C>T; p.T381I, c.596G>T; p.R199M, c.443G>A; p.G148E, c.1858G>A; p.G620R, two nonsense mutations; c.863G>A; p.W288*, c.1214c>G; p.S405*, one splice site mutation; c.442+1G>A, one insertion; c.293insT and two deletions; c.1003_1004del, c.887delA. …”
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    Genotype and phenotype classification of 29 patients affected by Krabbe disease
  8. 3448
    “…The RNA helicase EIF4A3 regulates the exon junction complex and nonsense-mediated mRNA decay functions in RNA transcript processing. …”
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    Pharmacological systems analysis defines EIF4A3 functions in cell-cycle and RNA stress granule formation
  9. 3449
    “…All identified mutations lead to a partial or complete loss of function of BVES through nonsense-mediated decay or through functional changes to the POPDC1 protein. …”
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    Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
  10. 3450
    “…RESULTS: Genetic testing revealed a nonsense substitution, p.(Arg2204*), and a new missense variant, p.…”
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    A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations
  11. 3451
    “…Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853(∗)]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. …”
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    Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
  12. 3452
    “…No significant improvements in ppFEV(1) were observed for IVA, LUM, or TEZ in F508del homozygous individuals, LUM or LUM-IVA in F508del heterozygous individuals, or ataluren in individuals with a nonsense mutation. Significant improvements in ppFEV(1) and other clinical outcomes were observed for IVA in G551D individuals, TEV-IVA and LUM-IVA in F508del homozygous individuals, and IVA in adults with a R117H mutation.…”
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    A Systematic Review of the Clinical Efficacy and Safety of CFTR Modulators in Cystic Fibrosis
  13. 3453
    “…Nine patients were homozygous for the known nonsense variation p.Arg47* (c.139C > T), and one for the novel missense variation p.Ile53Arg (c.158T > G). …”
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    Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency
  14. 3454
    “…Two loss of function mutations were found in homozygous state in GHRHR receptor [c.57+1G>A];[c.57+1G>A] and [c.820_821insC];[c.820_821insC]. Two nonsense variants were in heterozygous state in GLI2 [c.1681G>T] and OTX2 [c.319C>T] and two heterozygous missense variants were identified in TGIF1 [c.260A>T] and GHSR [c.545T>C] - the last variant was present in two different individuals. …”
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    SUN-034 Genetic Diagnosis of Congenital Isolated or Combined Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel
  15. 3455
    “…The synonymous recoding strategies that have been applied to RNA viruses include: deoptimization of codon or codon-pair usage, which may reduce protein expression among other effects; increased content of immunomodulatory CpG and UpA RNA, which increase immune responses and thereby restrict viral replication; and substitution of serine and leucine codons with synonymous codons for which single-nt substitutions can yield nonsense codons, thus limiting evolutionary potential. …”
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    Attenuation of Human Respiratory Viruses by Synonymous Genome Recoding
  16. 3456
    “…In a genomic screen of 331 unrelated Japanese patients, we identify a disruptive Alu insertion and a nonsense variant (p.Arg1933*) in the ciliary gene RP1, neither of which are rare alleles in Japan. p.Arg1933* is almost polymorphic (frequency = 0.6%, amongst 12,000 individuals), does not cause disease in homozygosis or heterozygosis, and yet is significantly enriched in HRD patients (frequency = 2.1%, i.e., a 3.5-fold enrichment; p-value = 9.2 × 10(−5)). …”
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    A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
  17. 3457
    “…Previous research has demonstrated the mutation, c.712T>A (p.L238Q) of the gene for α-L- iduronidase (IDUA) in patients with Hurler-Scheie syndrome is relatively severe when paired with a nonsense or deletion or splice-site mutation. This mutation was also found to be associated with psychiatric symptoms. …”
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    A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation
  18. 3458
    “…Three-hundred and seventy-two healthy controls were screened for the presence of the identified (potentially) functional mutations. RESULTS: A novel nonsense mutation, p.Y743*, was identified in one familial breast cancer patient (1/127, 0.8%). …”
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    Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
  19. 3459
    “…Genetic sequencing revealed compound heterozygous or homozygous novel TTN mutations, including six frameshift mutations, one nonsense mutation, two missense mutations, one splicing mutation, and one small nonframeshift deletion. …”
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    Novel TTN mutations and muscle imaging characteristics in congenital titinopathy
  20. 3460
    “…Apart from six novel variants with a truncating effect (nonsense, deletion, insertion, and splice-site), four novel missense variants were not found in 200 unrelated control population by using Sanger sequencing. …”
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    Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families
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