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References from Generation of human induced pluripotent stem cell line (CMCi015-A) from a patient with nephronophthisis harboring compound heterozygous loss-of-function variants in the NPHP4 gene. Local targets link to admitted publications; unresolved targets remain external evidence.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
10.1016/j.kint.2023.05.007 · 2023 · External reference
Renal ciliopathies: sorting out therapeutic approaches for nephronophthisis
10.3389/fcell.2021.653138 · 2021 · External reference
