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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.
Chou CM et al.
Cell, 2015
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