Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.E1554_V1555del2
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CEP290

NM_025114.4:p.E1554_V1555del2

Associated Papers

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

Surl D et al.

Jama Network Open, 2024

38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf

Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.

Wang S et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016

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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."