Associated Papers
Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.
Zhu H et al.
Bmc Pediatrics, 2022
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Molinari E et al.
European Journal of Human Genetics : Ejhg, 2018
Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.
Copelovitch L et al.
American Journal of Medical Genetics. Part A, 2013
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