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Many genetic variants can result in a range of phenotypic expression (variable expressivity) and the chance of disease developing may not be 100% (reduced penetrance), further underscoring the importance of providing comprehensive clinical data to the clinical laboratory to aid in variant interpretation.
The reported family already contained many features of disease associated with SFTPC mutations: familial ILD, dominant expression, variable penetrance, and expressivity resulting in acute and chronic lung disease in individuals ranging from newborn to adult [ 10, 15, 16].
We explore the influence of each gene expression variable on these extrema.
Significant clinicopathologic variables were entered into multivariate analysis in two separate models, one with stromal CXCL16 expression variable (model 1) and one with the co-expression variable of cancer and stromal cell CXCL16 (model 2).
When significant, Kaplan-Meier plots were used to estimate survival curves for tertiles of the expression variable.
Cluster I was characterised by relatively high ESR1 expression, variable HER2 and ALCAM expression, and weak or negative SPP1 expression.
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Also, type expression variables are called simply type variables.
In a second experiment, we show that our parametrically generated expression variables correlate with the intended user affect perception.
Application of high-throughput expression and purification, combined with automated gel capillary electrophoresis, allowed the quantitative analysis of multiple expression variables in a single experiment.
Producing recombinant proteins in Escherichia coli (E. coli) is generally performed using a trial and error approach with the different expression variables being tested independently from each other.
Subsequently, we slightly modified a published incomplete factorial approach (called IF1) in order to evaluate the effect of three expression variables (bacterial strains, induction temperatures and culture media) on soluble expression levels of the three tested proteins.
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