Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0288-y
Abstract: Nucleotide variants that disrupt normal splicing might be the cause of a large number of diseases. Nevertheless, because of the complexity of splicing regulation, it is not always possible to accurately predict the effect of… read more here.
Keywords: functional reassessment; pax6 single; pax6; reassessment pax6 ... See more keywords