A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
Titel:
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
Auteur:
Richter, Felix Rutherford, Kayleigh D. Cooke, Anisha J. Meshkati, Malorie Eddy-Abrams, Vanessa Greene, Daniel Kosowsky, Jordana Park, Yeaji Aggarwal, Surabhi Burke, Rebecca J. Chang, Weili Connors, Jillian Giannone, Peter J. Hays, Thomas Khattar, Divya Polak, Mark Senaldi, Liana Smith-Raska, Matthew Sridhar, Shanthy Steiner, Laurie Swanson, Jonathan R. Tauber, Kate A. Barbosa, Mafalda Guttmann, Katherine F. Turro, Ernest