Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.E68delFs
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RLBP1

NM_000326.5:p.E68delFs

Associated Papers

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Heutinck PAT et al.

Scientific Reports, 2025

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

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.

Hipp S et al.

Acta Ophthalmologica, 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."