A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease

Felix Richter, Kayleigh D. Rutherford, Anisha J. Cooke, Malorie Meshkati, Vanessa Eddy-Abrams, Daniel Greene, Jordana Kosowsky, Yeaji Park, Surabhi Aggarwal, Rebecca Burke, Wei-li Chang, Jillian Connors, Peter J. Giannone, Thomas Hays, Divya Khattar, Mark J. Polak, Liana Senaldi, Matthew Smith-Raska, Shanthy Sridhar, Laurie A. Steiner, Jonathan R. Swanson, Kate A. Tauber, Mafalda Barbosa, Katherine Guttmann, Ernest Turro