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 J. Burke, Weili Chang, Jillian Connors, Peter J. Giannone, Thomas Hays, Divya Khattar, Mark Polak, Liana Senaldi, Matthew Smith-Raska, Shanthy Sridhar, Laurie SteinerJonathan R. Swanson, Kate A. Tauber, Mafalda Barbosa, Katherine F. Guttmann, Ernest Turro

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology