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Ferrell et al. [12] reported no significant effect of the MSTN variants we studied here on the muscle mass response to strength training in either Caucasians or African Americans (n = 153 men and women).
However, the variants we studied explain only a small proportion of the familial aggregation of diabetes.
In addition to modest, at best, estimations of significance, EMSA bands I and II did not distinctly resolve on autoradiographs in many variants we studied, including wildtype.
It remains possible that mutations at other loci on the tumor genome could yield poorer concordance proportions than those observed for the three metabolic enzyme variants we studied.
To investigate the pathological features of MSA with defective COQ2 variants, we studied Case 11, who had homozygous for the M128V-V393A COQ2 mutations.
Since it appears that two of the 15 variants we studied showed true series to series heterogeneity, it seems appropriate to consider that the heterogeneity observed for many of the other variants may also be real.
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"Looking at the variant we studied, large-scale genome-wide association studies show that women with one allele tend to have larger hips than women with the other one, which would have a protective effect against diabetes," she said.
However, information from the HapMap project shows strong LD between Gly16Arg and the Gly27Gln variant we studied (D′ = 0.94, r = 0.38) (Altshuler et al. 2005).
To determine if there were clinical and biological impacts of the BRCA1-3'UTR-variant, we studied a genetically and environmentally homogeneous population, to best control for "context" effects on variant function.
To analyse differences in phenotypic features between variant-positive and variant-negative patients, we studied 45 variant-positive patients for whom we had detailed clinical information (Supplementary Table 2a).
Several facts support that the variants we have studied were wild-type variants present in the B cells of 1kG Project individuals before the establishment of LCLs.
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