Sentence examples for mutations and phenotypes from inspiring English sources

Overall this work reveals a wide spectrum of mutations and phenotypes and has expanded the broad phenotypic spectrum of these paroxysmal movement disorders, suggesting where possible, as part of the investigative work-up, all three genes should be analysed in these conditions.

Kvarnung, M. et al. Genomic screening in rare disorders: new mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.

Therefore, this case report will devote to identify the causality between the spectrum of CCD mutations and phenotypes.

Analysis of the spectrum of observed mutations and phenotypes resulted in identification of a genotype-phenotype association for the most medically significant aspects of the disorders.

Within this context, Greaves and Maley [39] indicate that each cancer is unique to any individual, variable over time and composed of cellular lineages with distinct genetic mutations and phenotypes that can represent sub-clonal cancers occupying distinct or overlapping tissue habitats.

The relationship between glaucoma with gene mutations and phenotypes has been reviewed by Fan and Wiggs [ 65].

Gordon, C. T. & Lyonnet, S. Enhancer mutations and phenotype modularity.

In fact, the variation in sequence (including silent mutations) and phenotype indicated that all sequenced isolates were from different clones.

These cells show many differences about their genotype, such as Kras or p16 mutations, and phenotype, as adhesion, migration, invasion and angiogenesis capacities [ 26].

We estimate that there are >10 000 new articles published each year that describe findings on the relation between genetic mutations and phenotype or diseases.

We previously reported subjects with only a single disease-causing mutation and phenotypes exactly matching that of FRDA, who had disease-level frataxin levels in buccal swabs.