Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.L238R
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IMPG1

NM_001563.4:p.L238R

Associated Papers

Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.

Holtes LK et al.

Progress in Retinal and Eye Research, 2025

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

Brandl C et al.

Genes, 2017

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

Meunier I et al.

Ophthalmology, 2014

Gene discovery and prevalence in inherited retinal dystrophies.

Hamel CP

Comptes Rendus Biologies, 2014

Mutations in IMPG1 cause vitelliform macular dystrophies.

Manes G et al.

American Journal of Human Genetics, 2013

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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."