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The wSinvictaB variant is largely confined to individuals collected from the southwestern populations of Corrientes and Roldán/Rosario.
The specific targeting of human AKAP7δ in pharmaco-therapeutics should be undertaken with caution, as this splice variant is largely absent in humans.
The low enzymatic activity, tendency to precipitate, high susceptibility to proteolysis and lack of ANS binding of M284K-hGALE all suggested that this variant is largely unfolded in solution in vitro.
An individual homozygous for the 295C allele presented with isolated bilateral triphalangeal thumb resembling the heterozygous phenotype, suggesting that the variant is largely dominant to the wild-type allele.
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Importantly, the activities observed with this variant were largely preserved for human iNKT cell responses.
In addition, it observed that the significant association for the Q192R variant was largely explained by small studies while larger studies which are less prone to statistical bias, showed no significant association.
By contrast, the pathological relevance of the known SPINK1 promoter variants is largely unknown.
This increase in observed variants is largely the result of rare variants assayed by whole-genome sequencing (WGS).
Genome-wide association studies have implicated numerous candidate genes for inflammatory bowel disease (IBD), but evidence of causality for specific variants is largely absent.
As summarized in Table 4 (right columns), a correlation indeed exists between changes in enzymatic activity caused by amino acid substitutions and the relative yield of 4c Co II)rrinoid, indicating that the reduced activity of the variants is largely due to perturbations to the Co II)/Co(I) reduction step.
Rare variants have not been screened by GWAS, so this source of novel genetic variation is largely unexplored.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com