Article

A novel compound heterozygous PCDH15 variants may be associated with arRP in a Chinese pedigree

2023-12-06

Abstract excerpt

<title>Abstract</title> <p>Background Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. However, it is still not well understand about the relationship between <italic>PCDH15</italic> mutations and RP. Methods In this study, we enrolled a Chinese autosomal recessive retinitis pigmentosa (arRP) pedigree and identified the causative gene in the proband by targeted whole exome seque...

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Literature Corpus work: 5799d3b1-ebfa-551d-92da-5b50eeb11bfe
DOI: 10.21203/rs.3.rs-3687420/v1

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