Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.R156*
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RLBP1

NM_000326.5:p.R156*

Associated Papers

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Zhu J et al.

Genes, 2022

35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf

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 retinitis punctata albescens family with biallelic mutations in retinaldehyde-binding Protein 1.

Chen X et al.

Eye (london, England), 2020

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.

Naz S et al.

The British Journal of Ophthalmology, 2011

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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."