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资源简介：
Inherited retinal dystrophy
应用场景：
创建时间：
2013-11-22
相关数据集
Supplementary Material for: Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey
Introduction: To evaluate the current management of RPE65-biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of Voretigene Neparvovec (VN, Lu
DataCite Commons2023-07-22 更新90
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment: small non-coding RNA-seq data
We conducted a study involving 12 individuals with retinal dystrophy, neurological impairment and skeletal abnormalities placing special focus on GPATCH11, a lesser-known G-patch domain-containing pro
NIAID Data Ecosystem10
Table2_Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.XLSX
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photorecep
NIAID Data Ecosystem10
StoneRounds Case: SR46
StoneRounds Case SR46 was diagnosed with XL Retinitis Pigmentosa likely caused by mutations in the gene: RP2.
DataCite Commons2021-06-11 更新50
Additional file 11 of Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes
Supplementary file 11: Sequencing data from IRD3’ mother.
NIAID Data Ecosystem10
