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Six features were selected to build a classifier: the reference allele, the substituted allele, the mutation type, the mutation impact, the subcellular location and the protein domain.
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In order to comprehensively extract mutation impacts, the detection of several named entities and their relations, in particular mutations and protein properties, is required.
To estimate the likelihood that a mutation impacted the protein functionally, predictions were made based on PROVEAN (Choi et al. 2012).
Future studies will focus on determining how the Tp53 R270H mutation impacts the effectiveness of agents frequently used to treat patients with CaP, particularly androgen ablation and radiation therapy.
To determine whether the initial gltA mutation impacted the evolution of Cit+, we compared the effects of the citT mutation in otherwise isogenic pairs of strains with and without the gltA1 allele.
Although we do not know the precise mechanism by which the R1116T mutation impacts the activity of Yor1-ΔF, the aggregate of our evidence suggests that it is a dominant gain-of-function mutation that confers additional drug-pumping activity (see Additional File 1 - Discussion A and Additional file 1, Figure S1 for further description and characterization of the R1116T mutation).
To further test this hypothesis, exploratory analyses were performed to establish the frequency of PIK3CA hotspot mutations in exons 9 and 20 in Chinese patients enrolled in EGF109491 and to determine if the presence of a PIK3CA mutation impacts the clinical benefit of lapatinib plus capecitabine.
This framework allows us to give a simple condition for the existence and uniqueness of a stationary distribution for genome size in the absence of selection, and we characterize how each type of mutation impacts the spontaneous dynamics of genome size.
More studies are required to understand how these non-neutral mutations impact the biological network.
Meanwhile, presenilin mutations impact the cleavage of numerous proteins also with synaptic functions.
Future work further clarifying how TRPM8 mutations impact the channel may provide better clues to which direction pharmacological approaches should take, activating or blocking channel function.
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