Article

Expanding the genotype-phenotype correlations and mutational spectrum in inherited retinal diseases: novel and recurrent mutations

2023-11-30

Abstract excerpt

<h4>Background: </h4> Inherited retinal diseases (IRD) represent a prominent etiology of visual impairment on a global scale. The lack of a clear definition of the etiology and genotypic spectrum of IRD is attributed to the significant genetic variability seen. Additionally, there is a scarcity of available data about the correlations between genotypes and phenotypes in this context. This study aimed to clarify th...

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Literature Corpus work: aba6968b-0448-5802-b6c9-3d0091fd6022
DOI: 10.21203/rs.3.rs-3668908/v1

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