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Article

Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.

Investigative ophthalmology & visual science - 30 Jul 2013

Bae Ha Ae, Mills Richard A D, Lindsay Richard G, Phillips Tony, Coster Douglas J, Mitchell Paul, Wang Jie Jin, Craig Jamie E, Burdon Kathryn P

Abstract excerpt

PURPOSE: Keratoconus is a common complex corneal ectasia that can lead to severe visual impairment. Although a genetic component is well recognized, the genetic risk factors for keratoconus are yet to be fully elucidated. A recent genome-wide association study (GWAS) by Li et al. identified 15 potentially associated single nucleotide polymorphisms (SNPs). Here, we aimed to replicate these associations, and...

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Identifiers

PMID: 23833071
DOI: 10.1167/iovs.13-12377
PMCID: PMC3729241

Genes

KCND3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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