Genetics of Microcephalic Osteodysplatics Primordial Dwarfism
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https://www.omicsdi.org/dataset/ega/EGAS00001000064
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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, EdinburghEGA study EGAS00001000064
创建时间:
2017-07-26



