Study

Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGFB responses through SKI stabilization

Study ID Alternative Stable ID Type
EGAS00001004908 RNASeq

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001006801
RNA-seq of dermal fibroblasts treated ± TGF-β from control and Shprintzen-Goldberg syndrome patients.
Illumina HiSeq 4000 36

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Publications

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