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Article

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

PloS one - 1 Jan 2016

Wang Xia, Feng Yanming, Li Jianli, Zhang Wei, Wang Jing, Lewis Richard A, Wong Lee-Jun

Abstract excerpt

PURPOSE: When seeking a confirmed molecular diagnosis in the research setting, patients with one descriptive diagnosis of retinal disease could carry pathogenic variants in genes not specifically associated with that description. However, this event has not been evaluated systematically in clinical diagnostic laboratories that validate fully all target genes to minimize false negatives/positives. METHODS: We...

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Identifiers

PMID: 27788217
DOI: 10.1371/journal.pone.0165405
PMCID: PMC5082937

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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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