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Article

The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.

Investigative ophthalmology & visual science - 1 Aug 2024

Jiang Yi, Yi Zhen, Zheng Yuxi, Ouyang Jiamin, Guo Dongwei, Li Shiqiang, Xiao Xueshan, Wang Panfeng, Sun Wenmin, Zhang Qingjiong

Abstract excerpt

Purpose: This study aims to evaluate the genetic and phenotypic characteristics and elucidate the genotype-phenotype correlations of a large Chinese cohort with PAX6-related disorders. Methods: Variants detected with exome sequencing were filtered through multistep bioinformatic and co-segregation analyses, and validated by Sanger sequencing. The related clinical data were collected, and cluster analysis and...

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Source

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Identifiers

PMID: 39212610
DOI: 10.1167/iovs.65.10.46
PMCID: PMC11364179

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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