Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome
Uma M Neelathi, Ehsan Ullah, Aman George…·Brian P. Brooks
This study identifies six rare variants in NR6A1 in six families with oculo-vertebral-renal syndrome, demonstrating their pathogenicity through in silico, cellular, and zebrafish experiments.
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