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Notably, only a small fraction of psoriasis heritability is captured by the common risk variants identified to date.
This PCR enabled the detection of all KIF5B/CCDC6-RET fusion variants identified to date.
Many of the variants identified to date regulate insulin secretion and not insulin action in insulin-sensitive tissues.
Moreover, the genetic variants identified to date do not wholly explain the complex genetic susceptibility to alcoholism.
A human FMO3 database has been established (http://databases.lovd.nl/shared/genes/FMO3) and causative sequence variants identified to date have been reported.
3, 5 Those variants identified to date include large (>500 kb), rare, recurring (flanked by segmental duplications), hemizygous losses (deletions) and gains (duplications) at several loci (Table 3).
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Since the Glu104Asp TPI variant is the most common pathogenic TPI variant accounting for approximately 80% of TPI deficiency cases and is the only variant identified to occur in a homozygous state [2], we further explored the interaction properties between this variant and the other pathogenic TPI proteins.
T415I and T418I variants were identified to be almost 11 and 27 times more specific for ABTS than for SGZ compared with the wild type.
Low frequency and rare variants conferring susceptibility to common complex disease may have larger effect sizes compared to the common-variant associations identified to date.
Soon afterwards, an ASK1 variant was identified to confer susceptibility to T2D by decreasing insulin sensitivity owing to reduced ASK1 expression in skeletal muscle [ 106].
The P2X7 (k) variant was identified to be constitutively dilated and highly sensitive to agonist BzATP, and escaped gene deletion in one of the P2X7R knockout mouse strains.
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