Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.Q1654delFs
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CEP290

NM_025114.4:p.Q1654delFs

Associated Papers

[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].

Preising MN et al.

Klinische Monatsblatter Fur Augenheilkunde, 2019

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

Booij JC et al.

Ophthalmology, 2011

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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."