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Crossing between mouse strains harboring various FGFRs mutations is extremely important to elucidate the interactions between different FGFRs.
This and many other examples (including those described in the paper) suggest that the problem of dominant mutations is extremely complex.
In the absence of functional studies illustrating the genotype phenotype relationship, validating such private mutations is extremely difficult because of the difficulty of conducting sufficiently powered association studies.
Apart from mutations in a relative handful of cancer driver genes that occur in a significant proportion of tumors, the number of uncommon and rare mutations is extremely high.
The mutator phenotype is suppressed by the resulting mutational load only under extreme parameters: where deleterious mutations are common, the cost of deleterious mutations is prohibitively high, and the benefit for driver mutations is extremely low.
A conundrum in evolutionary theory is that the frequency of potentially advantageous genetic mutations is extremely low (Jablonka and Raz 2009; Day and Bonduriansky 2011; Kuzawa and Thayer 2011; Nei and Nozawa 2011; Laland et al. 2014).
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31 Either (G151R) or (L168R) is present in 99% of KCNJ5-mutated APAs, whereas the five other mutations are extremely rare.
It was developed by British scientists at the Institute of Cancer Research (ICR), who demonstrated in 2005 that cancer cells with BRCA1 and BRCA2 mutations were extremely sensitive to this.
The "status quo" meant that gene function was already close to its optimum in general, and advantageous mutations were extremely rare.
The gene mutations are extremely rare and together account for a tiny fraction of autism cases — in these studies, only a handful of children.
Exon 18 mutations are extremely rare comprising of 4.1% of all EGFR mutations and the delE709_T710insD mutation accounts for only 0.16% of mutations when occurring as a sole mutation, however, the frequency can vary with the kit utilized for testing.
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