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The process by which P. aeruginosa acquires adaptive mutations is referred to as 'pathoadaptation.' Mutational inactivation of the P. aeruginosa mucA gene results in a mucoid phenotype, and is one of the best-studied examples of an adaptive mutation directly correlated with persistent infections and poor clinical prognosis (reviewed in [31]).
An apocytochrome b562 RIL (BRIL) gene from E. coli, with M7 W, H102I, and R106L mutations is referred to as BRIL.
This mechanism, observed in some NaV1.5 mutations, is referred to as "reactivation under non-equilibrium conditions" [ 7].
25 As discussed in the previous section of this paper, WS caused by LMNA mutations is referred to as atypical Werner's syndrome.
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Other mutations are referred to as passenger mutations that contribute little to the malignant phenotype.
Variations in a gene that arise due to mutations are referred to as alleles.
Such mutations are referred to as rearrangement events, or simply operations.
Chromosomes resulting from a deletion or gene conversion are referred to as a '0' (a), whereas those with subtle SMN1 intragenic mutations are referred to as '1d' (d).
Persons to be tested for CF mutations are referred to our laboratory because of 1) symptoms typical for/indicative of CF, 2) fertility problems, and 3) CF in relatives/partners.
In this work, mutations are referred to as 'sub-clonal' if their CCF indicates they are present in only a subset of cancer cells within a given sample (CCF <1).
Although the most important skeletal muscle manifestations of MYH7 mutations are referred to as either myosin storage myopathy or Laing distal myopathy several cases cannot be classified into these groups because they either do not display distal muscle weakness or do not exhibit hyaline bodies.
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