Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.V253delFs
Back to variants list

CERKL

NM_001030311.3:p.V253delFs

Associated Papers

CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.

Sen P et al.

Ophthalmic Genetics, 2020

High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.

Garanto A et al.

Investigative Ophthalmology & Visual Science, 2011

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."