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  1. 194961
    “…BACKGROUND: Glycogen storage disease type 1b (GSD1b) is an ultra-rare autosomal recessive disorder, caused by mutations in SLC37A4 gene. Affected patients present with episodes of fasting hypoglycemia and lactic acidosis, hepatomegaly, growth retardation, hyperlipidemia and renal impairment. …”
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    Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients
  2. 194962
    “…INTRODUCTION: Non-small cell lung cancer (NSCLC) is often caused by molecular alterations that can be detected by predictive biomarkers including mutations or amplifications of several genes. Several tyrosine kinase inhibitors (TKIs) have been approved in Europe by the European Medicines Agency (EMA) for NSCLC. …”
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    Safety profile of tyrosine kinase inhibitors used in non-small-cell lung cancer: An analysis from the Italian pharmacovigilance database
  3. 194963
    “…This contagious disease was caused by the Severe Acute Respiratory Syndrome Coronavirus‑2 (SARS‑CoV-2) which is mutating over time. In 2021, the Delta variant became the most dominant transmissible form. …”
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    Knowledge, practice and attitude associated with SARS-CoV-2 Delta Variant among adults in Jordan
  4. 194964
    “…Furthermore, the majority of adaptive mutations were concentrated in the N-terminal domain of the Spike protein, highlighting its role in immune evasion. …”
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    Investigating SARS-CoV-2 breakthrough infections per variant and vaccine type
  5. 194965
    “…According to the analysis, the sampled H. canis sequences were found to be characterised by a certain heterogeneity. Based on five mutated nucleotide sites in the sequences, H. canis could be divided into five sequence types, S1 to S5. …”
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    High Prevalence and Genetic Variability of Hepatozoon canis in Grey Wolf (Canis lupus L. 1758) Population in Serbia
  6. 194966
    “…Future experiments will be required to investigate the effect of single mutations in gapdh or oppF gene on pathogenicity of M. synoviae.…”
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    Virulence factors of Mycoplasma synoviae: Three genes influencing colonization, immunogenicity, and transmissibility
  7. 194967
    “…However, no quinolone resistance-related mutations were detected in gyrA, gyrB, parC and parE genes. …”
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    318. A Pain in the Neck: Cervical Pyomyositis, a Rare Case of Extraintestinal Nontyphoidal Salmonellosis Further Characterized by Whole-Genome Sequencing.
  8. 194968
    “…AMRFinderPlus was used to categorize AMR genes and resistance-associated point mutations. RESULTS: Total of 38 isolates were analyzed. …”
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    325. Molecular Characterization of Antimicrobial Resistance Genes in Neisseria gonorrhoeae in Southeast Michigan
  9. 194969
    “…Other outcomes included development of virologic failure (VF), defined as 2 consecutive HIV-1 viral loads (VL) > 200 copies/mL after week 24, and documented INSTI-R mutations. Patient specific factors associated with medication nonadherence were also collected. …”
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    2060. Evaluation of the real world incidence of integrase inhibitor resistance since adoption as guideline preferred therapy
  10. 194970
    por Huang, Wenjie, Tan, Mei Gie, Tan, Yen Ee
    Publicado 2022
    “…In particular, one Aspergillus fumigatus complex isolate demonstrated resistance across all tested azoles and sequencing revealed Cyp51 mutations. [Figure: see text] [Figure: see text] CONCLUSION: Aspergillus species is the most prevalent clinically significant mold in our hospital. …”
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    351. Epidemiology and antifungal susceptibilities of clinically significant filamentous fungi from a tertiary hospital in Singapore from 2018 – 2021
  11. 194971
    “…A total of 630 single-nucleotide variants were identified, including 156 missense mutations. Sequence clustering revealed 3 previously unappreciated viral clades within the AdV D8 type. …”
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    Machine Learning Prediction of Adenovirus D8 Conjunctivitis Complications from Viral Whole-Genome Sequence
  12. 194972
    “…Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were used to explore the underlying molecular mechanisms involved in the signature to explore therapeutic vulnerabilities and potential targets in BLCA. Tumor mutational burden (TMB) and tumor immune dysfunction and exclusion (TIDE) were used to estimate the response to immune checkpoint inhibitors (ICIs). …”
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    Comprehensive analysis of cuproptosis-related lncRNAs in the prognosis and therapy response of patients with bladder cancer
  13. 194973
    “…DrDprA showed a strong interaction with DrRecA and facilitated RecA-catalyzed functions in vivo. Mutational studies identified DrDprA amino acid residues crucial for oligomerization, the interaction with DrRecA, and DNA binding. …”
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    Characterization of DNA Processing Protein A (DprA) of the Radiation-Resistant Bacterium Deinococcus radiodurans
  14. 194974
    “…The genome of the Omicron variant of concern (VOC) contains more than 50 mutations, many of which have been associated with increased transmissibility, differing disease severity, and the potential to elute immune responses acquired after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination or infection with previous VOCs. …”
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    Detection of SARS-CoV-2 in Saliva and Nasopharyngeal Swabs According to Viral Variants
  15. 194975
    “…Further, our study reveals that selection pressure plays a significant role in the evolution of CRESS-DNA viruses' Rep and Cap genes rather than mutational pressure. We hope this study will help determine the genetic diversity of CRESS-DNA viruses as more sequences are discovered in the future. …”
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    Genetic Diversity and Characterization of Circular Replication (Rep)-Encoding Single-Stranded (CRESS) DNA Viruses
  16. 194976
    “…The results indicated that ERBB2 mutations occurred at copy number 58.4934 (HER-2), TMB = 3.1, MSS. …”
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    Patients with positive HER-2 amplification advanced gastroesophageal junction cancer achieved complete response with combined chemotherapy of AK104/cadonilimab (PD-1/CTLA-4 bispecific): A case report
  17. 194977
    “…With the development of high-throughput sequencing, RNA sequencing has been widely used in the identification of candidate genes for complex traits in livestock, and the functional genes and mutations with large genetic effects on milk production traits can provide molecular information for marker-assisted selection to increase the selection accuracy and accelerate genetic gain in dairy cattle. …”
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    Identification of Genetic Effects of ACADVL and IRF6 Genes with Milk Production Traits of Holstein Cattle in China
  18. 194978
    “…Homologous recombination repair gene mutations (HRRm) are common in urothelial carcinoma (UC), rendering tumor cells sensitive to poly (ADP-ribose) polymerase (PARP) inhibition. …”
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    Durvalumab Plus Olaparib in Previously Untreated, Platinum-Ineligible Patients With Metastatic Urothelial Carcinoma: A Multicenter, Randomized, Phase II Trial (BAYOU)
  19. 194979
    “…We assessed the clonality of copy‐number alterations (CNAs) and mutations, CD8(+) lymphocyte infiltration, and their association with time to recurrence. …”
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    Copy‐number intratumor heterogeneity increases the risk of relapse in chemotherapy‐naive stage II colon cancer
  20. 194980
    “…With respect to antibody fine specificities, N-glycosylation site mutated immunogens yielded lower immune responses, particularly to the N-terminus of the molecule. …”
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    Exploring in vitro expression and immune potency in mice using mRNA encoding the Plasmodium falciparum malaria antigen, CelTOS
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