A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
Richter F, Rutherford KD, Cooke AJ, Meshkati M, Eddy-Abrams V, Greene D, Kosowsky J, Park Y, Aggarwal S, Burke RJ, Chang W, Connors J, Giannone PJ, Hays T, Khattar D, Polak M, Senaldi L, Smith-Raska M, Sridhar S, Steiner L, Swanson JR, Tauber KA, Barbosa M, Guttmann KF, Turro E.
Richter F, et al.
Am J Kidney Dis. 2024 Jan 10:S0272-6386(24)00010-6. doi: 10.1053/j.ajkd.2023.12.011. Online ahead of print.
Am J Kidney Dis. 2024.
PMID: 38211685