Sentence examples for mutations are functionally from inspiring English sources

However, distinguishing which mutations are functionally relevant to cancer pathogenesis remains a major challenge.

A larger proportion of COSMIC mutations have very low B-SIFT scores, suggesting that many COSMIC mutations are functionally deleterious.

Indeed, several studies demonstrated that mtDNA mutations are functionally recessive until the mutant load exceeds a specific threshold and leads to a biochemical dysfunction [ 8, 9, 11].

The vast majority of mtDNA mutations are functionally recessive and a biochemical deficit is only observed when there are high levels of mutated mtDNA and low levels of wild-type mtDNA (5, 6).

In contrast, collections of nonsynonymous polymorphisms or cis-regulatory polymorphisms are likely to contain many positions at which mutations are functionally neutral, leading to an underestimate of the strength of selection at functionally critical sites.

Though current data are beginning to elucidate which mutations are functionally relevant and indeed pathogenic, this complex issue of distinguishing true mutations from so-called background genetic noise must be deciphered before such a genetic test could be implemented effectively and universally among infants.

The rational design preserved binding of the natural substrates to the G protein, and the mutations were functionally innocuous in a cellular context.

The mutations were functionally analysed by overexpression in the hematopoietic progenitor cell line FDC-P1.

The latter two mutations were functionally shown to exert a dominant negative effect on ATM protein (Chenevix-Trench et al, 2002).

Thirteen HER2 mutations were functionally characterized by using in vitro kinase assays, protein structure analysis, cell culture, and xenograft experiments [ 43].

This class of mutations is functionally similar to nonsense point mutations that play a role in many cancers and might imply the loss of functionality of the 5' fused gene.