EGAS00001000064-sc-20130205 - samples

ABSTRACT: This project aims to find causal variants in 50 patients diagnosed with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD), of presumed recessive inheritance performing whole exome sequencing to ~50x mean depth. This is a collaboration with Prof A. Jackson, MRC Human Genetics Unit, Edinburgh

PROVIDER: EGAD00001000342 | EGA |

REPOSITORIES: EGA