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Article

Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.

Investigative ophthalmology & visual science - 2 May 2022

Wang Junwen, Wang Yingwei, Jiang Yi, Li Xueqing, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Sun Wenmin, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

Purpose: Heterozygous truncating variants of TOPORS have been reported to cause autosomal dominant retinitis pigmentosa (adRP). The purpose of this study was to investigate whether all heterozygous truncating variants, including copy number variants (CNVs), are pathogenic. Methods: TOPORS truncating variants were collected and reviewed through an in-house dataset and existing databases. Individuals with...

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Identifiers

PMID: 35579903
DOI: 10.1167/iovs.63.5.19
PMCID: PMC9123486

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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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