Sentence examples for characterised variant from inspiring English sources

The results of sequence analysis, clinical and molecular evaluation of the four patients carrying previously unreported POLG variants and one with the known, but poorly characterised variant, are summarized in Table  1.

To produce a system for studying the physiological consequences of the continuous production of differently misfolded proteins in P. pastoris, we selected two of these previously characterised variants, T70N and I56T, for heterologous production in chemostat cultures (Fig.  1a).

We tested a broad range of species and varieties to enable greater scope to characterise variants across the genus.

We characterised variation in this region to uncover haplotype structure and identify candidate functional variants.

In the case of proband AI2, the parents' DNA was unavailable, but POLG sequence analysis of her son (AII1) proved him to be the carrier of the known, but poorly characterised p.Arg309Cys variant.

To summarize, the yeast model proved to be a valuable tool for the initial assessment of the phenotypic effect of novel or poorly characterised POLG variants found in human patients.

Here, we characterise a variant of hMLH1 that confers a loss-of-function MMR phenotype.

Alternatively, one may identify and characterise splice variant products (ie, proteins) that contribute to the malignant phenotype and determine how they differ from their normal protein counterparts.

Detailed study of a family with a tumour spectrum satisfying the Amsterdam criteria for Lynch syndrome has allowed us to characterise a variant in hMLH1.

The variants were characterised with the associated variant caller software.

We outline a programme that has recently begun at Brunel University and e2v technologies to design, fabricate, and characterise variants of these pixel structures to perform a parametric study of CMOS imager performance.