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Specifically, except for one SNP, all variants are either located in introns or untranslated regions, thus their consequences are not straightforward (Additional file 9).
It emerged that these variants are either common and in turn contribute little to blood pressure variation [89,90] or are rare and have a relatively strong effect [102].
The remaining five variants are either likely to resemble rare transcripts according to the respective library construction protocol, or as in case of a disease-specific isoform (Hs.272688), the appropriate tissue sample was not available for experimental testing.
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Antibody variants were either de novo synthesized (GeneArt) or generated by in-house site-directed mutagenic PCR and confirmed by sequencing.
Variants were either nonsynonymous variants or splice site variants (8 bp splice acceptor, 20 bp splice donor).
Six variants were either nonsense or frameshift mutations, whereas the remaining two were predicted to be pathogenic by in silico analysis (Supp. Table S8).
We assumed that risk variants were either present or absent, and conferred the stated risk independent of the presence or absence of other genetic or environmental effects.
Variants were selected for follow-up when all of the following criteria applied: Variants were either nonsynonymous variants or splice site variants (8 bp splice acceptor, 20 bp splice donor).
However, an additional 18 non-synonymous variants were either not polymorphic or had not been genotyped in the HapMap samples, making inference about the relationship between rs1607237 and all variants of unknown significance in the PIK3CA coding region difficult.
The promoter variants were either PCR amplified using particular sense and antisense oligonucleotides or generated as variants via site directed mutagenesis by standard techniques, subcloned into pBluescript SKII+ and sequenced.
For some of the Wnt pathway genes the existence of splice variants was either proposed (e.g. β-Catenin and CTNNB1) or described only in non-colon tissues (e.g. GSK3β) or hitherto not published (e.g. LRP5).
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