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Article

Pathogenicity Analysis of Two Novel CRB1 Mutations in Three Chinese Inherited Retinal Dystrophy Families and a Literature Review.

Translational vision science & technology - 1 Jun 2026

Wang Yang, Guo Qingge, Li Ya, Liu Changgeng, Yao Shun, Lei Bo

Abstract excerpt

Purpose: This study aims to analyze the clinical features of three inherited retinal dystrophies (IRDs) pedigrees with CRB1 mutations, and assess pathogenicity of novel variants. Methods: A retrospective clinical study was conducted, involving three IRD pedigrees. Whole exome sequencing was performed. The in silico molecular genetic analysis and bioinformatics analysis were conducted. Western blot and...

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Identifiers

PMID: 42376998
DOI: 10.1167/tvst.15.6.42
PMCID: PMC13326868

Genes

CRB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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