Supplementary Materials

Supplementary Material for:

Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis

Theodore G. Drivas, Adam P. Wojno, Budd A. Tucker, Edwin M. Stone, Jean Bennett*

*Corresponding author. E-mail: jebennet{at}mail.med.upenn.edu

Published 10 June 2015, Sci. Transl. Med. 7, 291ra97 (2015)
DOI: 10.1126/scitranslmed.aaa5370

This PDF file includes:

  • Fig. S1. Human CEP290 mutations classified on the basis of their predicted coding effects.
  • Fig. S2. Levels of CEP290 transcript lacking certain exons, normalized to total CEP290 levels.
  • Table S1. Phenotypes of CEP290 disease.
  • Table S2. Mutations harbored by reported CEP290 patients.
  • Table S3. Mutations harbored by reported CC2D2A patients.
  • Table S4. Tabular presentation of data.

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