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5 melanoma cell lines: MelJUSO, A375, 607B, 518A2, Skmel 28
ORGANISM(S): Homo sapiens 
To examine methylation profile of the CpG promoters in clinical sample of GISTs.
ORGANISM(S): Homo sapiens 
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.
The datasets includes 21 samples from 7 families with Bosma arhinia microphthalmia (BAMS). For details of the study please refer to the manuscript "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development", Nature Genetics 2017. Each sample was exome seq...
Data Access Committee EGAC00001000583
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