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Table 2 summarizes structural data on the variant residues.
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That can't happen if Myriad or any other company—is the only one with data on the variants of a gene that exist and their associations.
In order to simulate data on the variants, two random draws and were made from a zero-mean K-dimensional multivariate normal distribution for each individual i.
We compare the causal effect estimate (and its precision) obtained from summarized data to that obtained if individual-level data on the variants, risk factor and outcome were available on the whole study population.
However, due to the limited clinical and functional data on these variants, the biological significance of these findings is still unknown, and further studies will be required to determine the pathogenic activity of these alleles.
Thus far no functional data on this variant exist, hence the mechanism by which rs1485305 affects OPG expression or function is yet unknown.
The crystal structure and the kinetic properties of the rs8192708G variant (V267) in human cytosolic PEPCK are available [31], [32], but in vitro data on the isoleucine variant (I267) in human cytosolic PEPCK has not been described.
As far as our present data on the Q121 variant is concerned, it is of note they are quite consistent with previous findings obtained in vivo.
Comparison of the structural data on the rs8192708G variant (V267) and I267 from the highly homologous rat cytosolic isozyme [33] (with 90% identity) illustrates the contribution of residue 267 to the formation of a hydrophobic pocket adjacent to the active site of the enzyme (Figure 3).
A large proportion of those papers reporting a novel association between a disease and a polymorphic variant do not include functional data on that variant.
Clearly, an easy-to-use free interface to the existing data on the identified variants would be in the interest of general public and professionals less familiar with the field.
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