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  1. 1781
    “…We tested this hypothesis for mutation S652L, which has previously been reported in twins with a severe neurodevelopmental disorder in the Deciphering Developmental Disorder Study, but has not been classified as a novel disease mutation. …”
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    Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder
  2. 1782
    “…The germline mutation of the TSC1/2 gene in bilateral renal angiomyolipomas is unclear. …”
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    Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients
  3. 1783
    por Chu, Quincy S.
    Publicado 2020
    “…These driver mutations can be categorized into mutations in or near the kinase domain, gene amplification or fusion. …”
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    Targeting non-small cell lung cancer: driver mutation beyond epidermal growth factor mutation and anaplastic lymphoma kinase fusion
  4. 1784
    “…BACKGROUND: The rate of S68G mutation in human immunodeficiency virus type 1 (HIV-1) reverse transcriptase has increased and is closely related to the K65R mutation among CRF01_AE-infected patients who failed treatment. …”
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    The S68G polymorphism is a compensatory mutation associated with the drug resistance mutation K65R in CRF01_AE strains
  5. 1785
    “…Recently, the importance of RNF43 mutation and BRAF V600E mutation has been reported in the serrated neoplasia pathway, which is one of the precancerous lesions in RCRC. …”
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    RNF43 mutation is associated with aggressive tumor biology along with BRAF V600E mutation in right-sided colorectal cancer
  6. 1786
    “…We investigated the role of TP53 mutations in predicting survival and response to EGFR-TKIs in EGFR-mutated NSCLC patients, to confirm, on an independent case series, our previous results. …”
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    Concomitant TP53 Mutation Confers Worse Prognosis in EGFR-Mutated Non-Small Cell Lung Cancer Patients Treated with TKIs
  7. 1787
    “…We characterized the mutational landscape of the patient with next-generation sequencing (NGS) and successfully identified specific T-cell responses to clonal neoantigens encoded by EGFR exon 19 deletion, TP53 A116T and DENND6B R398Q mutations. …”
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    Identification of Clonal Neoantigens Derived From Driver Mutations in an EGFR-Mutated Lung Cancer Patient Benefitting From Anti-PD-1
  8. 1788
    “…BACKGROUND: To establish a radiomic approach to identify epidermal growth factor receptor (EGFR) mutation status in lung adenocarcinoma patients based on CT images, and to distinguish exon-19 deletion and exon-21 L858R mutation. …”
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    3D radiomics predicts EGFR mutation, exon-19 deletion and exon-21 L858R mutation in lung adenocarcinoma
  9. 1789
    “…To investigate the U2AF1 gene mutation site, mutation load and co-mutations genes in patients with myelodysplastic syndrome (MDS) and their effects on prognosis. …”
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    Differential U2AF1 mutation sites, burden and co-mutation genes can predict prognosis in patients with myelodysplastic syndrome
  10. 1790
    “…Mutations in PSEN1, PSEN2, or APP genes are known to be causative for autosomal dominant Alzheimer’s disease (ADAD). …”
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    Mutational analysis in familial Alzheimer’s disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile
  11. 1791
    “…New genetic variations can also be generated in zygotes via illegitimate mutation (IM) and repeat-induced point mutation (RIP). …”
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    Third-generation sequencing-based mapping and visualization of single nucleotide polymorphism, meiotic recombination, illegitimate mutation and repeat-induced point mutation
  12. 1792
    “…We noticed that afo1(-) yeast readily obtains secondary mutations that suppress aspects of this phenotype, including its growth defect. …”
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    Slow Growth and Increased Spontaneous Mutation Frequency in Respiratory Deficient afo1(-) Yeast Suppressed by a Dominant Mutation in ATP3
  13. 1793
    “…Patients harboring combinational mutations in these genes were associated with a longer DFS according to the cBioportal online analysis. …”
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    Identification of Mutated Peptides in Bladder Cancer From Exomic Sequencing Data Reveals Negative Correlation Between Mutation-Specific Immunoreactivity and Inflammation
  14. 1794
    “…In 14 (25%) cases, T790M mutation was only detected after rebiopsy (57% by liquid biopsy), which increased the rate of mutation detection in 17%. …”
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    Real-World T790M Mutation Frequency and Impact of Rebiopsy in Patients With EGFR-Mutated Advanced Non-Small Cell Lung Cancer
  15. 1795
    “…TANK-binding kinase 1 (TBK1) mutations are a recently discovered cause of disorders in the frontotemporal dementia (FTD)–amyotrophic lateral sclerosis (ALS) spectrum. …”
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    Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature
  16. 1796
    “…They included two missense mutations, four nonsense mutations, which would lead to the truncated and nonfunctional protein products, four synonymous or silent variations, and two nucleotide deletions of 1 to 5 bp or frameshift mutations. …”
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    Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP)
  17. 1797
    “…The assessment of EGFR mutations is recommended for the management of patients with non-small cell lung cancer (NSCLC). …”
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    Evaluation of the Idylla ctEGFR mutation assay to detect EGFR mutations in plasma from patients with non-small cell lung cancers
  18. 1798
    “…A hallmark of IGHV-mutation status is that it very rarely changes clonally over time. …”
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    Post-Transformation IGHV-IGHD-IGHJ Mutations in Chronic Lymphocytic Leukemia B Cells: Implications for Mutational Mechanisms and Impact on Clinical Course
  19. 1799
    por Wang, Zhao-Wei, Wang, Li-Ping, Du, Ye, Liu, Qi
    Publicado 2021
    “…Conclusion: This is the first report of a pedigree with both SAC37 and CADASIL phenotypes carrying corresponding gene mutations. Mutations in the NOTCH3 gene may promote the clinical presentation of spinocerebellar ataxia type 37 caused by mutations in the DAB1 gene. …”
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    Mutations in NOTCH3 Gene may Promote the Clinical Presentation of Spinocerebellar Ataxia Type 37 Caused by Mutations in DAB1 Gene
  20. 1800
    “…BRAF mutated colon cancer presents with poor survival, and the treatment strategies are controversial. …”
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    BRAF Mutation as a Potential Therapeutic Target for Checkpoint Inhibitors: A Comprehensive Analysis of Immune Microenvironment in BRAF Mutated Colon Cancer
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