Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.K47_A48Splc
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RLBP1

NM_000326.5:p.K47_A48Splc

Associated Papers

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

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

Littink KW et al.

Ophthalmology, 2012

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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."