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Article

The Current State of Genetic Testing Platforms for Inherited Retinal Diseases.

Ophthalmology. Retina - 1 Aug 2022

Mustafi Debarshi, Hisama Fuki M, Huey Jennifer, Chao Jennifer R

Abstract excerpt

PURPOSE: To evaluate genetic testing platforms used to aid in the diagnosis of inherited retinal degenerations (IRDs). DESIGN: Evaluation of diagnostic tests and technologies. SUBJECTS: Targeted genetic panel testing for IRDs. METHODS: Data collected regarding targeted genetic panel testing for IRDs offered by different laboratories were investigated for the inclusion of coding and noncoding variants in disease...

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Identifiers

PMID: 35307606
DOI: 10.1016/j.oret.2022.03.011
PMCID: PMC9356993

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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