Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.E1514_R1515del2
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CEP290

NM_025114.4:p.E1514_R1515del2

Associated Papers

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Zampaglione E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Jiman OA et al.

European Journal of Human Genetics : Ejhg, 2020

31836858 (PubMed )
Supplement: 41431_2019_548_MOESM1_ESM.docx
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