Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies
Sign Up to like & getrecommendations! Published in 2020 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009100
Abstract: Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design of therapeutic options. Treatment of cystic fibrosis (CF) is an exemplar of this paradigm as the development of CFTR modulator therapies has… read more here.
Keywords: protein; precision therapies; cftr; intronic variants ... See more keywords