STUDY: Whole-exome study to identify the causative germline mutations of congenital macrothrombocytopenia

Study Description

To identify the causative germline mutations of congenital macrothrombocytopenia, whole-exome study of 6 families (21 individuals) with autosomal... Show More

Study Accession Alternative Stable ID type
EGAS00001000371 Exome Sequencing

Publications

Who archives the data?

European Genome-phenome Archive