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Mice transgenic for ASPM, and in vitro assays for MCPH1 confirm changes in the coding sequence have functional affects [ 25, 84].
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Additionally, overexpression of the mutants from a heterologous promoter might allow 'weak' alleles to have functional affect.
Association of DYX2 with multiple neurobehavioral traits suggests risk variants have functional consequences affecting multiple neurological processes.
Non-synonymous SNPs in coding regions of genes may be functional by altering an amino acid, which in turn may affect the structure and function of the encoded protein, while synonymous SNPs may have functional consequences by affecting the stability or folding of mRNA transcripts.
As the genomic sequences of α-adducin and GNB3 genes are highly polymorphic, it is of added interest to identify which polymorphism(s) in these genes might have functional potentials of affecting their bioavailability.
In any case, the overlap of dsiB with attP/ attL leaves the stop codon of dsiB unclear, and may have functional relevance or affect regulation of dsiB.
These results support that CNAs have functional consequences through affecting gene expression and may contribute to myeloma cell evolution through cancer-related pathways.
If RA cases had an excessive amount of this variation, which was subsequently found to have functional significance and affect GRβ mRNA stability, then a possible mechanism for relative GR resistance would have been found.
As a result, SNPs in the selenoprotein gene regions corresponding to the 3′UTR could have functional effects, potentially affecting not only the synthesis of the selenoprotein coded by the gene containing the SNP but also the synthesis of other selenoproteins.
These results suggest that nucleolin ErbB interaction may have functional role, as it affects receptor phosphorylation.
Some of these SNPs have functional implications for the affected genes.
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