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missense

  1. Relating to a mutation that changes a codon for one amino acid into a codon for a different amino acid.

  2. See more at point mutation



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The team then created transgenic flies with the four missense variants found in affected individuals using two different genetic methods.

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The tool's predictions for missense variants across the entire genome are accessible for non-commercial use and analysis at https://itanlab.shinyapps.io/goflof/.

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Brain metastases of smokers versus non-smokers had different missense mutations in TP53 and EGFR, except for L858R and T790M in EGFR, which were seen in both subgroups.

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Among the cohort, 46 patients had missense variants of the gene U2AF2 and six patients had variants of the gene PRPF19.

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Deeper profiling revealed that at third gene, RBFOX1, had missense variants that affected splicing and loss of proper neuron function.

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