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Article

Phenotype-Based Genetic Analysis Reveals Missing Heritability of KIF11-Related Retinopathy: Clinical and Genetic Findings.

Genes - 13 Jan 2023

Chang Haoyu, Zhang Xin, Xu Ke, Li Nien, Xie Yue, Yan Weiyu, Li Yang

Abstract excerpt

The purpose of this study was to detect the missing heritability of patients with KIF11-related retinopathy and to describe their clinical and genetic characteristics. We enrolled 10 individuals from 7 unrelated families harboring a pathogenic monoallelic variant in KIF11. All subjects underwent ophthalmic assessment and extraocular phenotype evaluations, as well as comprehensive molecular genetic analyses using...

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Identifiers

PMID: 36672954
DOI: 10.3390/genes14010212
PMCID: PMC9858922

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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