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Since the fluorescence microscopy data only hints about the localization of these variants, immunoprecipitation assays were performed to all the HFE variants to further clarify these results.
Such methods use linkage disequilibrium between nearby variants to further enrich variant identification.
We also included in our study eight GALNT12 variants to further investigate whether the SNP variability of this gene could be involved in genetic susceptibility to CRC.
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In this study we further investigated CBM4-2 as a diversity-carrying scaffold and explored the potential of selected variants to undergo further evolution in vitro to perfect their binding properties and their usefulness as molecular probes.
For hypothesis-generating studies, such interactions may continue for as long as there are variants to be further evaluated and as long as the subject retains an interest in the participation.
Though there are many details of tumor formation in colon cell lines with LEF-1 variants to be further understood, the proliferating capability of these cells may be one of the most important inherent initiating agents that can influence tumor growth.
Here we have found that 6% of PTEN mutation/variant-positive CS/CSL patients were also found to have germline SDHx variants, and the presence of SDHx variants appear to further modify PTEN mutation cancer risks over those of PTEN mutation in isolation.
For the rs676256 locus we first identified a subset of polymorphisms that had r ≥ 0.8 with the lead SNP and then filtered the putative functional significance of variants by applying a heuristic score using RegulomeDB (http://regulome.stanford.edu/) to prioritise candidate functional variants prior to further investigation.
The failure of Tx-Xyn, or variants thereof, to further solubilize xylans is probably not linked to intrinsic catalytic potency or to substrate selectivity of Tx-Xyn and its mutants, but rather to the inaccessibility of the substrate.
Since the previous study in which the expression of splice variants I and II was compared [ 25] revealed that variants' expression levels vary considerably (with the prevalence of splice variant I), to further demonstrate possible differences in expression the relative mRNA levels of the all five variants were assessed by standard RT-PCR.
a Number of samples which are well genotyped b Frequencies are shown in parenthesis c Odds ratios of alleles were calculated for each reference vs. variant allele To further analyze the haplotype structure in our sample, pair-wise linkage disequilibrium (LD) of the four SNPs in the control group was computed using the standardized measures D' and r2 values.
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