Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.R121W
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RLBP1

NM_000326.5:p.R121W

Associated Papers

Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.

Antropoli A et al.

Progress in Retinal and Eye Research, 2025

RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes.

Bianco L et al.

American Journal of Ophthalmology, 2024

Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study.

Burstedt M et al.

Investigative Ophthalmology & Visual Science, 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

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.

Bocquet B et al.

Ophthalmology Science, 2021

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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."