Associated Papers
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Huang Z et al.
Ophthalmic Genetics, 2021
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Coppieters F et al.
American Journal of Human Genetics, 2016
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