Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.Y111*
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RLBP1

NM_000326.5:p.Y111*

Associated Papers

Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy.

Damodar K et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024

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

Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.

Richard AJ et al.

Ophthalmic Surgery, Lasers & Imaging Retina, 2021

Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.

Dessalces E et al.

Jama Ophthalmology, 2013

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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."