Article

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease

2020-02-20

Abstract excerpt

<h4>Purpose</h4> Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify pathogenic GRK1 variants and use in-depth bioinformatic analyses to evaluate how their impact on protein structure could lead to pathogenicity. <h4>Methods</h4> Patients’ genomic DNA was sequenced by whol...

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Literature Corpus work: 52dd903c-9929-5def-9ad4-3769b2ea85ac
DOI: 10.1101/2020.02.20.936880

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