Article
Network-based framework for studying etiology and phenotype diversity in primary ciliopathies
2025-01-09
Abstract excerpt
Recent advances in sequencing technologies have increasingly enabled the identification of genetic causes for human monogenic diseases. However, systematic understanding remains limited due to the rarity, genetic heterogeneity, and complex genotype-phenotype relationships of these diseases. Primary ciliopathies are a diverse group of rare disorders caused by variants in genes associated with the cilium, a cellular...
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Identifiers and source
- Literature Corpus work
- 245ae6d1-b412-5538-87e1-99ab659adbbb
- DOI
- 10.1101/2025.01.08.631887