Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene

Date
2017
Author
Branch, Justin
Soens, Zachary
Li, Yumei
Wang, Keqing
Xu, Mingchu
Birch, David G.
Porto, Fernanda Belga Ottoni
Sallum, Juliana M. F. [ [UNIFESP]
Zhao, Peiquan
Sui, Ruifang
Koenekoop, Robert K.
Chen, Rui
Type
Trabalho apresentado em evento
ISSN
0146-0404
Is part of
Investigative Ophthalmology & Visual Science
Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO)
Metadata
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Citation
Investigative Ophthalmology & Visual Science. Rockville, v. 58, n. 8, p. -, 2017.
Sponsorship
R25 GM69234
URI
https://repositorio.unifesp.br/handle/11600/54392
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