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These analyses are not able to identify candidate genes that have a functional variant that affects protein function, protein stability, or binding.
The finding of a functional variant, which alters protein function, would greatly enhance our understanding of the mechanisms of albumin excretion in kidney health and disease.
Furthermore, a functional variant tagged by this SNP may not even alter the function of CCND3; the SNP lies in a large LD block with several genes that are reasonable candidates for breast cancer survival.
Bottini, N. et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.
Conclusion: This study suggests a functional variant of UCP1 contributes to the variance of AIRg in an AA population; the plausibility of this unexpected association is supported by the novel finding that UCP1 is expressed in islets.
To investigate the relationship between a functional variant rs189037(G>A) in ATM promoter and idiopathic nonobstructive azoospermia (INOA) in a Chinese population.
The discovery of a functional variant of the BDNF gene – the BDNF Val66Met polymorphism – led to new insights into the molecular genetic mechanisms underlying these emotional disorders.
This SNP is in linkage disequilibrium with a functional variant (rs4149056) that results in decreased OATP1B1 transporter activity.
IMPACT: These data provide support that a functional variant within the 3'UTR of IRF8 may be driving the GWAS signal seen on 16q24.1 for CLL risk.
A functional variant may nevertheless fail to be transmitted because human designers lack clairvoyance (Mesoudi et al. 2004; Nelson 2007; Mesoudi 2008).
The class of functions defined by \(\Sigma_1\ -formulas which are provably total in \Sigma_1\ -formulas) corresponds to a functional variant of this hierarchy (Cook and Nguyen 2010).
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