Associated Papers
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.
Duque-Cordoba PA et al.
Medicine, 2023
38013309 (PubMed )
Supplement: medi-102-e35600-s001.pdf
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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