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To date the number of genetic regulatory effects is unknown, as the extent of genetic structural variants has only begun to be elucidated.
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The selected ADH and ALDH gene variants had only minor effects, and did not seem to markedly modify the health effects of alcohol drinking.
SPANX-N5 variants had only synonymous mutations in exon 2. In addition, SPANX-N1 and SPANX-N5 genes keep a C to T mutation in exon 2 in all DNA samples analyzed, which causes generation of the premature stop codon.
The primary structures of the peptide variants had only minor differences relative to each other.
Within chordates, testes-specific H3 variants have only been reported from mammals.
Interestingly, results from functional analyses suggest that both of these variants have only partial functional activity.
Still, translating the resulting signals into function has been challenging because most common variants have only subtle functional consequences.
Even if these variants had only reached the frequency of 0.01 in the effectively very large wild auerochs population the "derived" allele could have resided within different haplotypes.
UbcM2 was incubated with either wt Ub, UbK0, or variants having only a single intact lysine, and identical reactions were conducted with UbcH5b for comparison.
In candidate gene studies, individual gene variants have only shown small effects, rarely reaching an odds ratio of 1.3 (e.g. Faraone et al. 2005).
It is now clear that, apart from the well-known APOE alleles, common genetic variants have only weak association with LOAD.
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