A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
- Resource Type
- Authors
- 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
- Source
- In American Journal of Kidney Diseases June 2024 83(6):829-833
- Subject
- Language
- ISSN
- 0272-6386