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资源简介：
Detection of mutations in patients with DMD
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创建时间：
2024-04-15
相关数据集
johannesburg_20150706_X
Genotype data and (in binary PLINK format) and imputed data (with merged 1000Gp3 and AGVP reference panel in GEMMA BIMBAM dosage format) for 750 individuals from Respiratory and Meningeal Pathogens Un
NIAID Data Ecosystem30
Pseudoautosomal region 1 overdosage affects the global transcriptome in iPSCs from patients with Klinefelter syndrome and high-grade X chromosome aneuploidies
Klinefelter syndrome (KS) is the most prevalent aneuploidy in males and is characterized by one or more supernumerary X chromosomes. Here, using a paradigmatic cohort of KS-inducible pluripotent stem
NIAID Data Ecosystem30
DMD and SMA sequencing
An MLPA based next generation sequencing assay has been developed that allows high throughput screening for a large number of fragments and samples suspected with DMD or SMA by integrating additional
NIAID Data Ecosystem20
Xq H3K27me3
Green is RNA FISH using a probe against XIST RNA. Red is an anti-H3K27me3 antibody. Blue is DAPI. These images were used to calculate data shown in Table 2.
NIAID Data Ecosystem30
Xq macroH2A #2
Green is RNA FISH using a probe against XIST RNA. Red is an anti-macroH2A antibody. Blue is DAPI. These images were used to calculate data shown in Table 2.
NIAID Data Ecosystem20
