Specific granule deficiency

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Information
Disease name
Specific granule deficiency
Disease ID
Description
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
CEBPE 14 23,117,306 23,119,255 12
Annotation
Genes Mutation Description Source Links
OMIM Phenotype Series Number (OMIM)
PS245480
MedGen concept unique identifier (MedGen Concept name)
C0398593
MedGen unique identifier (MedGen Concept name)
140766