Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization
- Resource Type
- Journal
- Authors
- Di Scipio, Matteo; Tavares, Erika; Deshmukh, Shriya; Audo, Isabelle; Green-Sanderson, Kit; Zubak, Yuliya; Zine-Eddine, Faycal; Pearson, Alexander; Vig, Anjali; Tang, Chen Yu; Mollica, Antonio; Karas, Jonathan; Tumber, Anupreet; Yu, Caberry W.; Billingsley, Gail; Wilson, Michael D.; Zeitz, Christina; Heon, Elise; Vincent, Ajoy
- Source
- INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; AUG 2020, 61 10, p36 14p.
- Subject
- Language
- English
- ISSN
- 15525783