Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.G116R
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RLBP1

NM_000326.5:p.G116R

Associated Papers

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

Munir A et al.

Bmc Ophthalmology, 2024

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C et al.

Scientific Reports, 2019

30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1

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."