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We then combined fine-mapping, bioinformatics, and bench-based approaches to functionally characterize all candidate causal variants at this locus.
They show that the likely causal variants at this locus modulate expression of a chromosomal domain encompassing PLAG1 and several other genes.
The susceptibility variant at this locus is highly correlated with the reported AS SNP (rs6600247, r2=0.97) and variants at this locus have been shown to be associated with CD8+ T-cell counts21.
The major histocompatibility complex (MHC) is one of the most extensively studied regions in the human genome because of the association of variants at this locus with autoimmune, infectious, and inflammatory diseases.
The maximum interaction energy between the anti-site defects and the martensitic variant is estimated to be 16 times larger than that between different martensitic variants at this defect concentration.
Independent mutation events at rs10524523 that occurred during Caucasian evolution have given rise to multiple categories of poly-T length variants at this locus.
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A variant at this locus confers the largest effect on LDL-cholesterol of any known common allele [4].
Our results, based on demographic simulations and neutral selection tests, showed that the variation found in PAX9 exon 3 is incompatible with a simple neutral model, being consistent with the fact that at least one variant at this exon (Ala240Pro) might be functional.
Although diagnostic applications are normally not performed at 60°C, we determined the stability of HRP at this temperature since we observed nice differences for the glyco-variants at this temperature and the assay could be easily performed in the laboratory.
It also remains possible that SNP rs10825269 is in linkage disequilibrium with another functional DNA variant at this locus.
Because these strains are haploid, the frequency of the variant at this position had to be ≥0.9.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com