Sentence examples for variants are functionally from inspiring English sources

In some cases, there is evidence that these variants are functionally distinct.

Therefore, we hypothesized that rare SNPs that have arisen recently should be given priority when determining what genetic variants are functionally relevant for human diseases.

Further analysis is needed to determine whether such subclonal variants are functionally important in supporting the development of sporadic hemangioblastomas [ 45, 46].

Although it is known that the OPG gene variants are functionally important, the pathogenetic mechanism of the OPG gene variants in the development of DR remains unclear [ 24, 27, 29].

However, both the P22S and E281K substitutions led to a dramatic reduction in ligand-dependent tetramerisation compared to wild type SAMHD1, even in the presence of the highest dGTP concentration, which indicates that these variants are functionally defective.

This curious behaviour suggests that the length variants are functionally distinct, perhaps in a subtle way: for example, they could be recognized by different paralogous proteins; or they might all be recognized by the same protein but be modulated by interactions with distinct additional factors.

In summary, by utilizing suitable mycobacterial promoters, MjtRNA and MjTyrRS variants were functionally expressed in M. smegmatis, BCG and Mtb.

Unique Tat exon-1 variants were functionally characterized for LTR transactivation, TAR interaction and cell death.

The coding variants were functionally annotated using Variant Annotation Tool (VAT) [ 8] which uses the GENCODE v7 gene annotation set [ 9].

A total of 230 Japanese individuals were resequenced [ 17– 19] and the identified non-synonymous variants were functionally characterized [ 17, 20, 21].

PRPS1 variants were functionally characterized to assess their impact on the enzyme activity, and detailed neurological evaluation was performed in order to refine genotype/phenotype correlations.