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This variant causes an arginine to tryptophan replacement (at site 22 of the amino acid sequence) and was confirmed by capillary sequencing.
The differential expression of most of the identified genes in HGPS can potentially be explained by the hypothesis that an abnormal prelamin A variant causes Rb to differentially interact with or regulate downstream partners.
To rule out that a low intracellular protein level of the Ile170Val TPI variant causes this diminished activity in yeast, we analyzed the expression levels of the different TPI variants in yeast by immunoblot analyses.
The Comt variant causes downstream differences in the expression of genes involved in synaptic function, and also modulates phenotypes such as dopamine D1 and D2 receptor binding and pharmacological responses to haloperidol.
The rs1042522 variant causes an amino acid change (R72P) with demonstrated functional consequences; the R72 variant is a stronger and faster inducer of apoptosis than the 72P variant [25], [26] while the 72P variant binds more efficiently to iASPP, an inhibitor of pro-apoptotic function of p53 [27].
This variant causes MTHFR enzyme activity to slow down.
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"There are gaps, and we need to remember that a genetic variant causing a disorder might be in one of those gaps," says Ellard.
During the same period in Europe, the new GII.4 variant caused outbreaks during the winter, spring and summer [24] [26].
The variant 1996 was identified in the epidemic year 2000 01 and was the only NoV GII.4 variant causing outbreaks during this period.
This variant caused out-of-frame skipping of exon 23 of BRCA1.
In contrast, this variant caused no significant change in nuclear foci formation.
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