Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome – a population-based analysis of their significance
Abstract Genetic testing in nephrotic syndrome may identify heterozygous predicted-pathogenic variants (HPPVs) in autosomal recessive (AR) genes that are known to cause disease in the homozygous or compound heterozygous state. In such cases, it can be difficult to define the variant’s true significa...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2024-08-01
|
| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-024-68837-2 |