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The most common ways of analyzing missense mutations are focused on two distinct but related goals.
In some genes (e.g., JAK2, KRAS, PDGFRA), mutations are focused mainly within a few key sequence regions; in others (e.g., APC, TP53, CDKN2A), infrequent mutations are spread across hundreds of positions within the gene.
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Mutations were focused on amino acid positions that were believed not to be critical for the protein's structure or function.
Most studies on TP53 mutations were focused on patients with CK, 17p abnormalities or older population.
Knockout mutations were focused on subunits of the Major Histocompatibility Complex (MHC) class I (β2m−/− or H2KbDb−/−), subunits of the CD3 complex (δ−/− or ϵ−/−ζ−/−), and Recombination Activating Gene 2 (RAG2−/−).
This phenotype is very similar to Tex14 knockout mice phenotype and therefore the search for causal mutation was focused on Tex14 gene.
Activating mutation of KRAS and BRAF are focused on as potential prognostic and predictive biomarkers in patients with colorectal cancer (CRC) treated with anti-EGFR therapies.
Well-designed behavioral screens are focused to find mutations specific to a particular neural system.
These differences might occur due to limited sample sizes (number of mutations) investigated in individual studies that are focused on one protein or members of a protein family (e.g. Hao et al., 2010).
10.7554/eLife.03553.008 Figure 3. Deaminase mutation footprints are focussed to the pre-initiation complex region of active promoters.
In the superimposed structure, the region flanking (10 bp) the unique mutation (E→G) was focused (Fig. 4) and the mutated amino acid side chain protruded out of the structure.
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