Associated Papers
Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot.
Leonard RJ et al.
Frontiers in Cardiovascular Medicine, 2020
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Arts HH et al.
Nature Genetics, 2007
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