Genomics

Dataset Information

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Exome sequencing of a cohort of Rett syndromelike patients


ABSTRACT: The aim of the project is the definition of the molecular defect in a cohort of Rett-like patients negative for mutations in known disease genes. To this aim, a number of unrelated trios (patients plus parents) will be analysed by exome sequencing. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

PROVIDER: EGAS00001002059 | EGA |

REPOSITORIES: EGA

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