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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia

GSE228834 Homo sapiens Expression profiling by high throughput sequencing 9 samples Submitted 2024/04/30 Platform GPL20301
Summary
Main purpose of the project is to investigate the consequences of loss-of-function variants of ZFTRAF1 on transcriptome profiling of the patient compared to control. In this data, we seen differential expression of genes involved in the autophagy and mRNA processing. To identify the globally dysregulated expression of genes, we performed tbul transcriptome profiling from RNA-seq of 2 different patient samples along with three controls.
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Direct links to NCBI, no account and no request form: the whole study as GSE228834_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 9 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA951710 and SRA study SRP430744. Searching any of these in the dataset finder brings you back here.

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