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There are indications that some de novo non-synonymous substitutions could be associated with various intellectual disabilities but the functional impact of these mutations is not well understood [ 45].
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Until the present time, a total of ∼122 germline variations in POLI gene have been described for human individuals in dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP), but the functional impacts of these genetic variations have not been biochemically evaluated yet.
High-throughput transcriptome studies are producing a fast-growing catalog of splicing variation in human populations, but so far information on the functional impact of such splicing variation is limited, and few if any analogous studies are available for plants.
To check this hypothesis, we further studied the functional impact of all missenses SNPs on RIG-I function.
'Sequence-derived' fGSA regarding the functional impact of not only coding genes, but also non-coding regulators, is necessary.
Similarly, the functional impact of either cognition or brain morphology in relatives remains unknown.
Our goal was to investigate the functional impact of trait-impulsivity in BP.
However, further studies are required to confirm the functional impact of this variant on diabetic nephropathy.
Since then, various lines of evidence have confirmed the functional impact of gene regulatory mutations[4].
The functional impact and potential mechanisms of these strength gains were also assessed.
Our study provides a first attempt to identify the functional impact of miR-155 in normal human pulmonary fibroblasts.
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