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Article

Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.

Ophthalmic genetics - 1 Dec 2020

Sun Zixi, Wu Shijing, Zhu Tian, Li Hui, Wei Xing, Du Hong, Sui Ruifang

Abstract excerpt

BACKGROUND: The GUCY2D gene encodes the photoreceptor guanylate cyclase (GC-E) and different pathogenic variants can lead to Leber congenital amaurosis (LCA) or cone-rod dystrophy (CRD). In this study, we describe three unrelated families who carried different mutations at codon 838 of the GUCY2D gene, and presented different phenotypes of retinal degeneration. MATERIALS AND METHODS: Family and personal histories...

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Identifiers

PMID: 32811265
DOI: 10.1080/13816810.2020.1807026

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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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