Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD
Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10% of patients remain undiagnosed after standard genetic testing. We aimed to utilise short and long-read genome sequencing...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2023-07-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-023-00362-z |