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The classification of equivalent phenotypes carrying different types of mutations will provide insight into functional networks and their constituting elements.
In these cell types TERT promoter mutations will provide an immediate and strong proliferative advantage over neighboring cells.
Cataloging of these mutations will provide insight into previously untapped Mendelian genes, some of which may already have equivalent embryonic lethal mouse phenotype.
Moreover, elucidating the functional consequences of these mutations will provide the opportunity to study FMRP domains by identifying critical residues and characterizing the function of different domains in a clinically relevant context, as demonstrated by the I304N point mutation.
Understanding the frequency of virologic failure and resistance mutations will provide important information regarding the prognosis of HIV-infected youth in resource-limited settings and may provide insights into optimal first and second-line regimens [ 12].
Most genetic alterations will be deleterious and purged from the population (or maintained at low frequencies) but, in rare cases, these mutations will provide a fitness advantage - fueling adaptive evolution.
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Further characterization of the mutated gene or locus and the effect of the mutation will provide novel information about the biochemical pathway involved in the development of lung emphysema.
The mouse model harboring leptin V145E mutation will provide new information on the current understanding of leptin biology and novel mouse model for the study of human obesity syndrome.
Discovery of the mutation will provide an explanation to family members; will allow appropriate counselling for future generations as well as enable clinicians to implement management strategies to prevent disease progression.
Moreover, these results, in combination with clinicopathological investigations of epidermal diseases derived from the aberrant processing of profilaggrin by SASPase mutation, will provide a novel concept to dissect the complex mechanisms of percutaneous antigen priming in atopic diseases.
The ongoing phase 1 study of avitinib in China in lung cancer patients with T790M mutation will provide the first set of clinical data of third-generation EGFR inhibitors in Chinese patients.
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