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Article

Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish.

Clinical genetics - 1 Nov 2022

Ouyang Jiamin, Li Shiqiang, Sun Wenmin, Xiao Xueshan, Wang Yingwei, Jiang Yi, Zhang Qingjiong

Abstract excerpt

High myopia is one of the most common causes for blindness due to its associated complications. Genetic factor has been considered as the major cause for early-onset high myopia (eoHM), but exact genetic defects for most eoHM are yet to be identified. Through multi-step bioinformatics analysis of our in-house whole exome sequencing dataset from 6397 individuals, variants from 928 probands with eoHM were further...

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PMID: 35989590
DOI: 10.1111/cge.14213

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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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