Preferred Label : Germline GATA2 Gene Mutation;
NCIt synonyms : Germline NFE1B Gene Mutation; Germline GATA Binding Protein 2 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the GATA2 gene that originates in the gametes.;
NCI Metathesaurus CUI : CL1907434;
Origin ID : C200425;
- is_molecular_abnormality_of_disease
- molecular_abnormality_involves_gene