Sentence examples for detailed mutation from inspiring English sources

Detailed mutation analysis is then restricted only to the PAC-identified outlier exons.

Detailed mutation modeling such as this will be required to understand how molecular perturbations underlie the etiology of epilepsy syndromes.

Nevertheless, despite the low cost and ubiquity of next-generation sequencing, detailed mutation signatures of only a few known carcinogens have been elucidated experimentally so far.

The APC mutational spectrum, which includes the findings of the specific study, as well as previously reported mutations in the Greek population are summarized in Figure 1, whereas all patient clinical data, family members tested and detailed mutation information are summarized in Table 1.

However, the application of protein level analyses is limited by the diverse specificity of different antibodies and the lack of detailed mutation information.

Future studies on the full-length structures of class-C GPCRs, as well as more detailed mutation analysis on the linker-ECL2 interaction will be necessary to verify the current hypothesis on the mechanisms for the activation of class-C GPCRs and in particular the mechanisms for signal transduction from the ECD dimer to the 7-TM dimer.

Detailed mutations in SPG11 of 10 unrelated families with ARJALS are described in Table 2. Eight of these nucleotide changes were homozygous and two others were heterozygous compounds.

For these genes, we have detailed mutations type (stop, frameshift, multiples or replace) in Additional file 2. These loss/gains genes could be explain by the adaptation of this bacterium living in sympatric environment (metagenomic sample) [ 31] and having the opportunity to exchange genes.

Typer automates the identification of mutants by comparing ratios of the wild type peak to that of all suspected mutants and generates an Onco Mutation report detailing specific mutations and the ratios of wild type and mutation peaks.

In detail, mutation K618A located in the transition between ICL3 and TMH6 was reported to decrease Gq-mediated IP only and not Gs-related cAMP accumulation [41].

Herein we have detailed the mutations and alterations leading to histone methylation defects in pediatric brain tumors, and have indicated that these are in addition, associated with novel DNA methylation patterns.