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Article

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.

Journal of glaucoma - 1 Dec 2017

DeLuca Adam P, Alward Wallace L M, Liebmann Jeffrey, Ritch Robert, Kawase Kazuhide, Kwon Young H, Robin Alan L, Stone Edwin M, Scheetz Todd E, Fingert John H

Abstract excerpt

BACKGROUND: Approximately 1% of normal tension glaucoma (NTG) cases are caused by TANK-binding kinase 1 (TBK1) gene duplications and triplications. However, the precise borders and orientation of these TBK1 gene copy number variations (CNVs) on chromosome 12 are unknown. METHODS: We determined the exact borders of TBK1 CNVs and the orientation of duplicated or triplicated DNA segments in 5 NTG patients with...

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Source

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Identifiers

PMID: 28984711
DOI: 10.1097/IJG.0000000000000792
PMCID: PMC5716909

Genes

TBK1
TANK

Provenance

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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