Sentence examples for variants that create from inspiring English sources
Genetic variants that create or destroy an miRNA binding site may be the casual cis-acting eQTLs.
Variants that create cryptic splice sites were not included, because we consider these cases to be sequence-specific as opposed to positional.
This transformation may be driven by cross-talk with other signaling pathways that can activate AR signaling in the absence of androgens, and AR splice variants that create constitutively active ARs [ 22, 59, 60].
While our knowledge of overall genetic and symptom risk related to ASD has been fostered by sibling studies, there remain gaps in our understanding of the discrete molecular genetic variants that create vulnerability to ASD among siblings, as well as how variability in neural functioning serves as an endophenotypic link between genetic risk and behavioural manifestations of the disorder.
Variants that created a stop codon at the variant site were considered as stop-gain variants.
One exception is a recently discovered Hsp90α alternative splice variant that creates a very large N-terminal extension of 122 residues.
Moreover, there is increasing evidence that gene loci that harbor GWAS-discovered common variants may also harbor uncommon and rare variants and mutations that create related disease phenotypes [23], [24].
This could be due to variations that create splice variants, UTR mutations that impact mRNA stability and protein expression, or mutations that impact transcription of AID, including alterations to transcription factor binding sites or sites important for epigenetic modulation of expression.
Previous studies with similar numbers of variants have focused on mutators that create very well-defined signatures (e.g., indels in homopolymeric sequence for mismatch repair defects) (Zanders et al. 2010; Ma et al. 2012).
New mutations that create single nucleotide or copy number variants may result in variable gene expression.
RFLP was performed for only those variants that do create a restriction site.
