Pathogenicity and Functional Analysis of Multi-Variant Allele of <i>RPE</i> 65 Causing Retinitis Pigmentosa

Accurately assessing multi-variant alleles is important but challenging, and this study explored the pathogenicity and function of a multi-variant allele of RPE65.

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Publication Details

Journal
Translational Vision Science & Technology
Published
2026-02-02
DOI
https://doi.org/10.1167/tvst.15.2.1
Primary Topic
Retinal Development and Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE 65 Causing Retinitis Pigmentosa

Ya You, Leilei Hao, Shun Yao, Qingge Guo et al.
Translational Vision Science & Technology
Retinal Development and Disorders
article

Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE 65 Causing Retinitis Pigmentosa

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

Abstract

Accurately assessing multi-variant alleles is important but challenging, and this study explored the pathogenicity and function of a multi-variant allele of RPE65.

Translational Vision Science & TechnologyVol. 15(2)
Zhengzhou University (CN), Henan Provincial People's Hospital (CN), Henan Provincial Eye Hospital (CN), University of Pennsylvania (US)
National Natural Science Foundation of China
Zero hunger
Openalex Percentile: Top 70%
Retinal Development and Disorders
DOIOpen Access PDFOpenAlex
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