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Article

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2015

Huang Xiu-Feng, Huang Fang, Wu Kun-Chao, Wu Juan, Chen Jie, Pang Chi-Pui, Lu Fan, Qu Jia, Jin Zi-Bing

Abstract excerpt

PURPOSE: Inherited retinal dystrophy (IRD) is a leading cause of blindness worldwide. Because of extreme genetic heterogeneity, the etiology and genotypic spectrum of IRD have not been clearly defined, and there is limited information on genotype-phenotype correlations. The purpose of this study was to elucidate the mutational spectrum and genotype-phenotype correlations of IRD. METHODS: We developed a targeted...

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PMID: 25356976
DOI: 10.1038/gim.2014.138

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AHI1

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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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