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Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.

Acta ophthalmologica - 1 Nov 2022

Wang Junwen, Xiao Xueshan, Li Shiqiang, Jiang Hongmei, Sun Wenmin, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

PURPOSE: Variants in six genes encoding pre-mRNA processing factors (PRPFs) are a common cause of autosomal dominant retinitis pigmentosa (ADRP). This study aims to determine the characteristics of potential pathogenic variants (PPVs) in the six genes. METHODS: Variants in six PRPF genes were identified from in-house exome sequencing data. PPVs were identified based on comparative bioinformatics analysis,...

Topics

Humans
Eye Proteins
Genes, Dominant
Mutation
Pedigree
Retinitis Pigmentosa
RNA Precursors
RNA Splicing

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35138024
DOI: 10.1111/aos.15104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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