Associated Papers
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Plaisancié J et al.
Journal of Medical Genetics, 2023
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations.
Kessel L et al.
Ophthalmic Genetics, 2022
Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.
Gupta S et al.
Experimental Eye Research, 2017
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.
Cukras C et al.
Plos One, 2012
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
Maranhao B et al.
Genomics, 0
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