Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.E547*
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CEP290

NM_025114.4:p.E547*

Associated Papers

The genetic profile of Leber congenital amaurosis in an Australian cohort.

Thompson JA et al.

Molecular Genetics & Genomic Medicine, 2017

29178642 (PubMed )
Supplement: MGG3-5-652-s003.pdf

[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].

Preising MN et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007

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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."