SalidoLab 2024.Genes paper. WVU humans with IMPG1/2 mutations
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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 data directly supports the findings published in "Yuan M, Chatterjee S, Leys M, Odom JV, Salido EM. Prevalence of IMPG1 and IMPG2 Mutations Leading to Retinitis Pigmentosa or Vitelliform Macular Dystrophy in a Cohort of Patients with Inherited Retinal Dystrophies. Genes (Basel). 2025 Jan 1;16(1):43. doi: 10.3390/genes16010043. PMID: 39858590; PMCID: PMC11764596.", 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:
2026-06-30



