Study
Functional analysis of GATA2 synonymous mutations
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001003817 | Other |
Study Description
Germline mutations in SAMD9 and SAMD9L (SAMD9/9L) genes predispose to myelodysplastic syndromes (MDS) and show high prevalence in pediatric MDS with monosomy 7. Here, we studied an international cohort of children with primary MDS to assess the prevalence, hematological features, genetics, clonal evolution and clinical outcome in patients with germline SAMD9/9L mutations compared to pediatric MDS with either germline GATA2 mutations or pediatric MDS with wildtype status in SAMD9/9L and GATA2 genes
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001005272 |
This dataset consists of 6 BAM files. These are whole exome sequencing data of pediatric patients with myelodysplastic syndrome.
|
Illumina MiSeq | 6 |
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