학술논문
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
Document Type
Article
Author
Richter, F.; Barbosa, M.; Rutherford, K.D.; Greene, D.; Turro, E.; Cooke, A.J.; Park, Y.; Meshkati, M.; Eddy-Abrams, V.; Guttmann, K.F.; Kosowsky, J.; Aggarwal, S.; Sridhar, S.; Burke, R.J.; Chang, W.; Connors, J.; Giannone, P.J.; Khattar, D.; Hays, T.; Polak, M.; Senaldi, L.; Smith-Raska, M.; Steiner, L.; Swanson, J.R.; Tauber, K.A.
Source
In: American Journal of Kidney Diseases . (American Journal of Kidney Diseases, June 2024, 83(6):829-833)
Subject
Language
English
ISSN
15236838
02726386
02726386