Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
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Lu H, et al. Among authors: tunningley r.
Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22.
Nat Genet. 2017.
PMID: 28530676
Free PMC article.