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Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis in an assisted reproductive center

2024-11-20

Abstract excerpt

<title>Abstract</title> <p>Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by disease-causing variants in two large multi-exon genes of PKD1 and PKD2. Genetic diagnosis of ADPKD has been challenging due to the variant heterogeneity, presence of duplicated segments, and high GC content of exon 1 in PKD1. In our reproductive center, a total of 312 patients with ADPKD phenotype have been geneti...

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Literature Corpus work: c903dbc1-174a-5d0a-9360-350644780b9f
DOI: 10.21203/rs.3.rs-5235348/v1

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