Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.R1471fs
Back to variants list

CEP290

NM_025114.4:p.R1471fs

Associated Papers

Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.

Wang J et al.

American Journal of Ophthalmology, 2023

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."