Mostrando 961 - 980 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.65s Limitar resultados
  1. 961
  2. 962
    “…Interestingly, the three recurrent TSD associated mutations were clustered on chromosome 13 and accounted for 38% of the HEXA mutations detected in this study. …”
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  3. 963
    “…There is a lack of comprehensive research aimed to identify AD-associated risk mutations systematically. To address this challenge, we hereby construct a large-scale AD mutation and co-mutation framework (‘AD-Syn-Net’), and propose deep learning models named Deep-SMCI and Deep-CMCI configured with fully connected layers that are capable of predicting cognitive impairment of subjects effectively based on genetic mutation and co-mutation profiles. …”
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  4. 964
    “…Somatic mutations occur as random genetic changes in genes through protein-affecting mutations (PAMs), gene fusions, or copy number alterations (CNAs). …”
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  5. 965
    “…Myeloproliferative neoplasms are characterized by the acquisition at the hematopoietic stem cell level of driver mutations targeting the JAK/STAT pathway. In addition, they also often exhibit additional mutations targeting various pathways such as intracellular signalling, epigenetics, mRNA splicing or transcription. …”
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  6. 966
    “…CASE DESCRIPTION: We present a case summary of the clinical data and treatment process of a child with PCD and short stature induced by Novel exon 1 of CCNO mutation (NM-021147.5) at c.323del, and the proband father and mother were heterozygous mutators, who was diagnosed and treated in the Pediatric Healthcare Department of our hospital. …”
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  7. 967
    “…We therefore sought to identify co-evolutionary changes between the 5’-leader and RT in viruses developing RT-inhibitor resistance mutations. METHODS: We sequenced 5’-leader positions 37–356 of paired plasma virus samples from 29 individuals developing the NRTI-resistance mutation M184V, 19 developing an NNRTI-resistance mutation, and 32 untreated controls. 5’-leader variants were defined as positions where ≥20% of NGS reads differed from the HXB2 sequence. …”
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  8. 968
    “…Based on tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), we developed a method to quickly genotype Zucker rats with a mutated fa allele from their wildtype littermates. …”
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  9. 969
  10. 970
    “…An OMIM search with the term “AI” yielded 79 result entries. Mutations in the same gene cause syndromic or non-syndromic AI, depending on the nature of the mutations. …”
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  11. 971
    “…We also searched for novel mutations appearing at relapse. RESULTS: The concordance rate between mutations in plasma compared to tumor tissue was 83 % at diagnosis and 90 % at relapse. …”
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  12. 972
  13. 973
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  15. 975
    “…We exploited this direct selection for mutation to study the frequency at which spontaneous mutations arise (transitions and transversions, insertions and deletions). …”
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  16. 976
    “…RESULTS: We identified three clinically important mutations in the BRCA1 gene, including seven occurrences of the c.5382insC mutation, three of c.4154delA, and one instance of c.3881_3882delGA. …”
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  17. 977
  18. 978
  19. 979
  20. 980
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