Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.L550delFs
Back to variants list

CEP290

NM_025114.4:p.L550delFs

Associated Papers

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Lieviant JA et al.

European Journal of Human Genetics : Ejhg, 2025

40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1

A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.

Farooqui SZ et al.

Ophthalmic Genetics, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."