Richter, F., Rutherford, K. D., Cooke, A. J., Meshkati, M., Eddy-Abrams, V., Greene, D., Kosowsky, J., Park, Y., Aggarwal, S., Burke, R. J., Chang, W., Connors, J., Giannone, P. J., Hays, T., Khattar, D., Polak, M., Senaldi, L., Smith-Raska, M., Sridhar, S., … Turro, E. (2024). A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease. American Journal of Kidney Diseases, 83(6), 829–833. https://doi.org/10.1053/j.ajkd.2023.12.011
Subjects:
Introns
(MeSH)
Receptors, Cell Surface
(MeSH)
Ciliopathies: Genetic Disorders Involving Primary Cilia
(OpenAlex Topic)
Molecular Mechanisms of Kidney Development and Disease
(OpenAlex Topic)
Genomic Imprinting and Parental Gene Expression Control
(OpenAlex Topic)
Publication Type:
Article
Unique ID:
10.1053/j.ajkd.2023.12.011
PMID:
Journal:
Publication Date:
Data Source:
OpenAlex