Associated Papers
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 2024
39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf
Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.
Han Y et al.
Italian Journal of Pediatrics, 2024
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
Gambadauro A et al.
Genes, 2023
Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly.
Ravindran E et al.
Frontiers in Neurology, 2023
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun DA et al.
The Journal of Clinical Investigation, 2018
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