PLOS
open access
CC BY 4.0
The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts
Autosomal dominant polycystic liver disease (ADPLD) commonly results from pathogenic variants in one of 7 genes (GANAB, ALG8, ALG9, PRKCSH, SEC63 and possibly LRP5 and SEC61B). These genes are also included in kidney panels because pathogenic variants cause kidney cysts but rarely kidney failure. T
Conceptio Open Archive
Analyze & explore related research in Conceptio
Connect this record directly into your research workflow or AI agent. Explore citations across open repositories, query full text, and export structured proof bundles.
This document is indexed with metadata only: full text is not available in the archive for this record. Open the official source ↗
Related documents
- Clinical Implications of DNA Analysis on ADPKD#1086958
- Mitochondria-related pathogenic genes in acute and chronic kidney disease: a Mendelian randomization study#350246
- RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I#1092229
- SPINK5 variants drive clinical variability in netherton syndrome through Th2/Th17 skewing and influence therapeutic outcomes#309503
- Screening disease feature genes and analyzing correlations with immune cell infiltration in knee osteoarthritis chondrocytes based on multiple machine learning algorithms#285417
Record · ID 1121217
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Bring this data into your agent: Connect via MCP or API · 20 free credits to start · no card required
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive