Varaico: Literature-Extracted Genetic Variants

Gene:RBP4
Variant:p.I59N
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RBP4

NM_006744.4:p.I59N

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

Genetic Variations Associated with Vitamin A Status and Vitamin A Bioavailability.

Borel P et al.

Nutrients, 2017

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."