A team of multidisciplinary researchers at Cincinnati Children’s and the University of Virginia has developed a computational tool dubbed “SNAF” (spliced neo antigen finder) that they suggest may help ...
Mechanisms of molecular pathology and erythromycin treatment in myotonic dystrophy type 1 In myotonic dystrophy type 1, aberrant RNA transcribed from the mutant DMPK gene leads to the aggregation of ...
This is a preview. Log in through your library . Abstract Alopecia, neurologic defects, and endocrinopathy (ANE) syndrome is a rare ribosomopathy known to be caused by a p.(Leu351Pro) variant in the ...
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