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Article

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Investigative ophthalmology & visual science - 1 Nov 2016

Roberts Lisa, Ratnapriya Rinki, du Plessis Morné, Chaitankar Vijender, Ramesar Raj S, Swaroop Anand

Abstract excerpt

Purpose: A majority of genes associated with inherited retinal diseases (IRDs) have been identified in patients of European origin. Indigenous African populations exhibit rich genomic diversity, and evaluation of reported genetic mutations has yielded low returns so far. Our goal was to perform whole-exome sequencing (WES) to examine variants in known IRD genes in underrepresented African cohorts. Methods:...

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Identifiers

PMID: 27898983
DOI: 10.1167/iovs.16-19785
PMCID: PMC5132076

Genes

CERKL
ABCA4
PRPF3
PRPF31
RHO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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