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Article

Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa.

Translational vision science & technology - 2 Feb 2026

Wu Guiyue, Guo Qingge, Li Ya, Yao Shun, You Ya, Hao Leilei, Lei Bo

Abstract excerpt

Purpose: Multi-variant alleles causing retinitis pigmentosa (RP) are extremely rare. This study aimed to explore the pathogenicity and function of a multi-variant allele of RPE65 associated with retinitis pigmentosa. Methods: Ophthalmic evaluations were performed. Targeted next-generation sequencing was performed for the proband, and Sanger sequencing was conducted in the family members. In silico molecular...

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Identifiers

PMID: 41626883
DOI: 10.1167/tvst.15.2.1
PMCID: PMC12875345

Genes

RPE65

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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