Associated Papers
Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.
Salman MA et al.
Pediatric Nephrology (berlin, Germany), 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
Hertz JM et al.
Pediatric Nephrology (berlin, Germany), 2022
Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.
Cordido A et al.
International Journal of Molecular Sciences, 2021
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Lu H et al.
Nature Genetics, 2017
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