Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.Y560*
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IMPG2

NM_016247.4:p.Y560*

Associated Papers

Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.

Georgiou M et al.

American Journal of Ophthalmology, 2025

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

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

Brandl C et al.

Genes, 2017

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM et al.

Journal of Medical Genetics, 2016

27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

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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."