Sentence examples for variants which show from inspiring English sources

To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome.Ten children with heterozygous, de novo KCNQ2 R201C or R201H variants were identified worldwide, using an institutional review board (IRB -approved KCNQ2 patient registry and database.

Eliminate any variants which show strong LD with another variant; for example, where the second variant occurs in 90% of subjects carrying the first variant.

These three polymorphisms have previously been shown to have undergone natural selection in Yoruba and encode protein variants which show increased ability to lyse trypanosomes (Genovese et al. 2010).

We also highlighted those variants which show the predominant ENU-induced base changes in phenotype-based screens, namely T > C, A > G, T > A or A > T [ 19], as well as variants in regions previously confined in SNP arrays for each strain.

In chloroplasts of plants and in cyanobacteria, however, the Clp protease core is a heteroheptamer, containing three proteolytically active ClpP subunits and four inactive ClpR variants, which show sequence similarity to ClpP on the amino acid level, but lack the catalytic triad of serine type proteases [ 38, 39].

Inactive variants were defined as variants which showed no detectable activity in buffer.

Of the mtDNA variants which showed nominal evidence for association in the screening phase, two in the HVSI region, which were screened in a larger cohort, showed reduced evidence for association.

All five variants which showed reduced protein levels in Figure  1A also demonstrated significantly reduced interaction with GCK.

This prediction is also verified with an analysis of 788 neutral variants, which shows a large overabundance at residues with high % dfi (Fig. 2C).

In contrast to mitochondria from cells expressing WT or C62S BAX variants, which showed a strong BAX signal, only trace amounts of BAX C126S variant were found in the mitochondria, whereas the mitochondrial marker VDAC was equally distributed.

The mixed gellan solutions with 30 70% high acyl gellan each show two distinct coil-helix transition temperatures on cooling for the high acyl and low acyl gellan variants, which shows that the problems associated with the high gelation temperature of the high acyl gellan gum are present in the mixed systems.