GeneticsNeurobiology of DiseasePeer-reviewed
Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates Retinitis Pigmentosa and Enhanced S-cone Syndrome models
Izarbe Aísa-Marín, M. José López-Iniesta, Santiago Milla Navarro…·Gemma Marfany
This paper generates two Nr2e3 mouse models using CRISPR-Cas9-D10A nickase to study retinal dystrophies, identifying a new short isoform and phenotypes resembling human RP and ESCS.
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