Sentence examples for because of truncating mutations from inspiring English sources

Assigning a gene to a disease is relatively straightforward where the phenotype is clear and the disease is predominantly because of truncating mutations in a single gene.

This is in line with Kastritis et al. [12], who also noted an underrepresentation of truncating mutations compared to the mutation spectrum in colorectal cancer.

Because ATP7B mutation analysis, due to the great heterogeneity of mutations, is quite laborious, we asked if serum ceruloplasmin levels might allow prediction of truncating mutations.

Similarly, we test each gene to see if it has a significantly higher proportion of truncating mutations than the proportion of truncating mutations observed over all genes.

A genotype phenotype correlation was also noted with position of truncating mutations corresponding to disease severity.

Three cases with a similar combination of truncating mutations have been reported previously.

It is likely a more nuanced diagnostic and prognostic interpretation of truncating mutations will be needed.

Although more N-terminally located truncating mutations might be expected to give rise to more severe phenotypes by disrupting more of the functional domains, no genotype-phenotype correlations are apparent with respect to the location of truncating mutations in RAB23.

All mutations identified in our cohort were predicted to truncate the LIG4 protein to varying degrees, and position of truncating mutations correlated with the phenotype severity observed (Fig.  4).

Because no truncating mutations passed our filters, further functional studies are required to assess whether any of the confirmed variants is ultimately a causal mutation, specifically those variants considered of interest because of their functional implications (missense and 3'UTR) and gene function.

Our finding of heterozygous truncating mutations in the asymptomatic parents opposes the idea that haploinsufficiency is a possible pathogenic mechanism.