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Unveiling Digenic Pathogenic Variants and Mutation Susceptibility in Chinese Patients with Suspected Retinitis Pigmentosa

2024-01-29

Abstract excerpt

<title>Abstract</title> <p>Background Retinitis pigmentosa (RP; MIM: #268000) is a type of inherited retinal dystrophy (IRD) characterized by the progressive loss of retinal photoreceptors. In recent years, the field of bioinformatics has made significant advancements, enabling us to uncover new digenic disease variants associated with RP. Additionally, there is increasing attention given to identifying prevalen...

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Literature Corpus work
e242bbf0-1ddf-5dc6-82bd-041bdf64ea7e
DOI
10.21203/rs.3.rs-3888446/v1
Open publication

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Unveiling Digenic Pathogenic Variants and Mutation Susceptibility in Chinese Patients with Suspected Retinitis PigmentosaDOI 10.21203/rs.3.rs-3888446/v1
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