Varaico: Literature-Extracted Genetic Variants

Gene:RBP4
Variant:p.Y132N
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RBP4

NM_006744.4:p.Y132N

Associated Papers

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.

Plaisancié J et al.

Journal of Medical Genetics, 2023

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs

Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.

Nedelec B et al.

Human Genetics, 2019

Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

Riera M et al.

Molecular Genetics & Genomic Medicine, 2017

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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."