Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.E547_L550del4
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CEP290

NM_025114.4:p.E547_L550del4

Associated Papers

Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial.

Cideciyan AV et al.

Ophthalmology Science, 2022

36249682 (PubMed )
Supplement: mmc1.docx

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.

Russell SR et al.

Nature Medicine, 2022

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Wang X et al.

Journal of Medical Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."