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Novel Variants in Phosphodiesterase 6A and Phosphodiesterase 6B Genes and Its Phenotypes in Patients With Retinitis Pigmentosa in Chinese Families

2021-05-20

Abstract excerpt

<h4>Background: </h4> Retinitis pigmentosa (RP) is a genetically heterogeneous disease with 65 causative genes identified to date. However, only approximately 60% of RP cases genetically solved to date, predicating that many novel disease-causing variants are yet to be identified. The purpose of this study is to identify novel variants in phosphodiesterase 6A and phosphodiesterase 6B genes and present its phenotyp...

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Literature Corpus work: b39266b4-7d15-5a4e-b435-0e783d2245fa
DOI: 10.21203/rs.3.rs-507306/v1

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