Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.D326Y
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IMPG1

NM_001563.4:p.D326Y

Associated Papers

Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.

Huang YS et al.

Investigative Ophthalmology & Visual Science, 2025

41060150 (PubMed )
Supplement: iovs-66-13-12_s002.xlsx › Table_S2-cloning_primers

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › VUS

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W et al.

Investigative Ophthalmology & Visual Science, 2015

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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."