官方服务：
资源简介：
Exome and genome sequence of individuals with elevated basal serum tryptase and an associated multisystem disorder.
应用场景：
创建时间：
2017-11-21
相关数据集
Additional file 7: Table S3. of Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome
Table of positively enriched gene sets. (XLSB 188Â kb)
Figshare2016-12-15 更新80
Microarray analysis of Multiples Sclerosis Brain tissue in comparison to control brain tissue
MS is a primary demyelinating disease of the central nervous system. The cause is unknown and pathological hallmarks include plaque formation with immune cell infiltration. A microarray analysis of ch
NIAID Data Ecosystem70
BubR1 allelic effects drive phenotypic heterogeneity in MVA progeria syndrome [3 month old RNA-seq]
Mosaic-variegated aneuploidy (MVA) syndrome is a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 aberrations, increased chromosome missegregation, and a broad spectrum of cl
NIAID Data Ecosystem40
Single Nuclei Transcriptome Analysis of Human Liver with Integration of Proteomics and Capture Hi-C Bulk Tissue Data
The liver is the largest solid organ and a primary metabolic hub. In recent years, intact cell nuclei were used to perform single-nuclei RNA-seq (snRNA-seq) for tissues difficult to dissociate and for
NIAID Data Ecosystem70
Supplementary Material for: Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss
We report on a boy with non-syndromic hearing loss and an apparently balanced translocation t(10;15)(q26.13;q21.1). The same translocation was found in the normally hearing brother, father and paterna
NIAID Data Ecosystem70
