Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

Study ID Alternative Stable ID Type
EGAS00001005346 Exome Sequencing

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Our probands A and B are boys-monozygotic twins with the clinical diagnosis of severe intellectual impairment, developmental stagnation, and dysphasia. They were diagnosed at the Department of Medical Genetics and Genomics (University Hospital Brno). Parents provided written informed consent, which was approved by the Research Ethics Committee of Masaryk University and Ethics Committee of University Hospital Brno. Peripheral blood samples were collected in sterile heparinized tubes for ... (Show More)
Illumina NovaSeq 6000 4

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