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ESGI - Molecular diagnosis for mitochondrial disorders (2017-08-29)

Dataset ID Technology Samples
EGAD00001003596 Illumina HiSeq 2000 125

Dataset Description

The MITOEXME project aims to improve protocols for molecular diagnosis of patients with OXPHOS disorders with a focus on a next generation sequencing methods and to increase the knowledge of pahtophysiological mechanisms by identification of new targets and cellular studies. In this project we will sequence the exomes fo 120 patients. This dataset contains all the data available for this study on 2017-08-29.