EGAS00001000064-sc-20130205 - samples
收藏NIAID Data Ecosystem2026-03-10 收录
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资源简介：
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 dataset EGAD00001000342
创建时间：
2017-07-26
