Exact(3)
A single polymorphic site occurred in the coding region with a variant that caused an in-frame deletion (table 3).
Therefore, the virus variant that caused the outbreak was likely introduced to Russia or Middle Asia ≈3 years before the outbreak and circulated extensively without causing notable illness.
In two out of the 44 tumours this detected in the DFFA gene one rare allele variant that caused a non-polar to a polar amino acid exchange in a preserved hydrophobic patch of DFF45.
Similar(57)
Genaissance officials estimate that there are some 30 million SNP's in the human population, and say a SNP chosen at random is unlikely to pinpoint a gene variant that causes disease or drug response.
"If there's some variant that causes [that nutrition system] to be less efficient," she says, "that could have some long-term effect on susceptibility to eye disease".
The acetylation of as few as three lysines by aspirin in A4V apo-SOD1 a apo-SOD1 aat causes familial amyotrophic lateral sclerosis (ALS)—delayed amyloid nucleation by 38% and slowed amyloid propagation by twofold.
A nonsynonymous SNP (NS) is a single nucleotide variant that causes an amino acid change of its corresponding protein.
The BHMT polymorphism could also create a highly efficient variant that causes the metabolic cycles to overfunction when combined with high folate levels.
Finding the variant that causes a Mendelian disease, which is often a single mutation among this huge set of candidates, becomes analogous to looking for a needle in a haystack.
16, 17 On the other hand, the CYP3A5*3 splice site variant that causes loss of hepatic expression of CYP3A5 is common, but does not account for inter-individual variability of docetaxel disposition in Asian populations.
Examples of interesting findings include: the rs12805435 variant that causes IRF7 to have trans effects on interferon-inducible genes exclusively during influenza infection [ 4]; a SNP close to IFNB1 that causes a delayed alteration in the response to lipopolysaccharide [ 5]; and an IL2RA SNP that affects its own expression only in activated T cells [ 6].
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