Exact(8)
This variant is functional, as recently demonstrated for the class I RNR from Chlamydia trachomatis [ 18, 19].
In this report we describe the experiments that were performed to assess whether the −41 bp variant is functional.
The 2677 G>T variant is functional and leads to an Ala893Ser amino acid change in PGP.
Consequently, there is need for a method to rapidly check if an actin variant is functional, before going through the effort of expression and purification.
29 32 The rs16969968 variant is functional and leads to an amino acid change (D398N) in the nicotinic receptor α5 subunit protein.
In conclusion, we demonstrated that the −41 bp variant is functional and we have identified a regulatory region of GDF5 that can be exploited to overcome the OA genetic deficit mediated by the T-allele of rs143383.
Similar(52)
Rare variant collapsing methods are being further developed and extended to account for direction of effect, probability that a variant be functional, and genotype or sequence call uncertainty.
This individual "teleology" assures that variants are functional.
The associated variants are functional when tested in cellular systems.
The true extent, however, to which AS variants are functional remains to be uncovered.
A series of bioinformatics tools have been developed to predict whether variants are functional or deleterious.
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