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GHSR haplotypes have previously been associated with obesity [8], yet the only overlapping variant in these haplotype studies was rs572169.
Using the 109(2)80-GAL4 driver, we specifically expressed the K57A alpha variant in these sensory neurons, which results in similar morphological defects (Figure 1A-F), indicating that this element is effective at genetically reducing AMPK function in a manner similar to loss of function mutations.
Genotyping the prostate cancer-associated rs1447295 variant in these samples identified six heterozygotes harboring the risk allele A (CA genotypes).
We validated all INDEL sites that were designated as variant in these two samples in the union set.
The frequency of this variant in these Iraqi females is surprising when comparing with other datasets from the country where this variant could reach 31% [ 40].
Lack of the wild-type variant in these samples may reflect differences in sensitivity between the TRAP assay and the splice variant PCR.
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Common variants in these evaluated genes do not appear to be strongly associated with EOC risk.
Furthermore, the putative functional variant or variants in these loci mostly remain under investigation.
The difference of over 100 kb in distance accounts for the reduced power of WES to identify variants in these regions.
They identify low-frequency coding variants in IL23R that confer protection against inflammatory bowel disease but conclude that rare coding variants in these positional candidates do not make a large contribution to Crohn's disease risk.
Given the consistent findings across different-ethnic groups, further studies are warranted to perform investigations of functional genetic variants in these regions.
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