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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.
Hemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia.
Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G?>?A) and Hb Osu Christiansborg (HBB: c.157G?>?A).