A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
SpliceAI 在一名患有常染色体隐性多囊肾病的已故新生儿中鉴定出一个深内含子 PKHD1 变异
期刊:American Journal of Kidney Diseases
影响因子:8.2
doi:10.1053/j.ajkd.2023.12.011
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
