High-throughput splicing assays identify known and novel WT1 exon 9 variants in nephrotic syndrome
Cathy Smith, Bala Bharathi Burugula, Ian Dunn, Swaroop Aradhya, Jacob Otto Kitzman, Jennifer Lai Yee
The paper identifies known and novel splicing-disruptive variants in WT1 exon 9 using high-throughput assays, finding 16 new variants and 19 variants increasing the KTS+/KTS- ratio.
Kidney International Reports · Aug 4, 2023Peer-reviewedGenetic & Genomic Medicine