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Article

Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCACEP290 patients.

Veterinary ophthalmology - 1 Jan 2023

Minella Andrea L, Narfström Wiechel Kristina, Petersen-Jones Simon M

Abstract excerpt

PURPOSE: The rdAc cat has an intronic mutation in the centrosomal 290 kDa (CEP290) gene resulting in a frameshift and a premature stop codon (c.6960 + 9 T > G, p.Ile2321AlafsTer3) predicted to truncate the protein by 157 amino acids. CEP290 mutations in human patients cause a range or phenotypes including syndromic conditions and severe childhood loss of vision while the rdAc cat has a milder phenotype. We sought...

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Identifiers

PMID: 36495011
DOI: 10.1111/vop.13052
PMCID: PMC10107307

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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