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Article

GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.

Ophthalmic genetics - 1 Dec 2021

Zhong Junwei, You Bing, Xu Ke, Zhang Xiaohui, Xie Yue, Li Yang

Abstract excerpt

PURPOSE: Ocular albinism type I (OA1) is caused by mutations in the GPR143 gene. The purpose of this study was to describe the clinical and genetic findings in 13 patients from 12 unrelated Chinese pedigrees with a pathogenic variant of the GPR143 gene. METHODS: Most patients underwent clinical examination, including best-corrected visual acuity (BCVA), slit-lamp biomicroscopy, fundus examination, spectral domain...

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Source

Identifiers

PMID: 34346269
DOI: 10.1080/13816810.2021.1958352

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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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