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.

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Dataset ID Description Technology Samples
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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