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The three dimensional structure was generated by homology modelling to visualize the differences at N termini of known and newly identified variant.
Ultimately, the functional relevance of the identified variant(s) should be confirmed by in vivo or in vitro studies.
In practice it should be noted that the actual effect of the identified variant in an initial study is usually overestimated, a phenomenon called winner's curse [4] [6].
Although mapping hundreds of kilo bases from the coding sequence of MC4R the identified variant presumable disrupt the transcriptional control of MC4R.
The identified variant csv file lists the variants with frequency and local coverage.
The investigators estimated that 60% of incident myopathy could be attributed to the newly identified variant.
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The activity of the three identified variants compared to their parents is shown in Figure 2a.
Previous studies have identified variants in the gene for GluA receptors in persons with migraine [28].
Thus, the identified variants only explain a small fraction of the genetic risk.
Otherwise, the most powerful and efficient strategy for replication involves testing only the initially identified variants.
Sequence analysis of the cloned v-rDNA identified variant-specific single nucleotide polymorphisms (SNPs) in the transcribed region.
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