Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.R127*
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IMPG2

NM_016247.4:p.R127*

Associated Papers

Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.

Georgiou M et al.

American Journal of Ophthalmology, 2025

Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.

Brandl C et al.

Genes, 2017

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

van Huet RA et al.

Investigative Ophthalmology & Visual Science, 2014

Next-generation genetic testing for retinitis pigmentosa.

Neveling K et al.

Human Mutation, 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."