SalidoLab 2024.Genes paper. WVU humans with IMPG1/2 mutations 2
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资源简介：
This Dandiset contains the curated, public-domain scientific data evaluating the phenotypic, genotypic, and structural impacts of mutations in the interphotoreceptor matrix proteoglycans 1 and 2 (IMPG1 and IMPG2). The hosted data directly supports the findings published in "2025. Yuan_Salido. Prevalence of IMPG1 and IMPG2 Mutations Leading to Retinitis.pdf", which establishes the clinical presentations and estimated prevalence of these rare variants within an inherited retinal dystrophy (IRD) patient population.
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DANDI Archive创建时间：
2026-07-01
