Preferred Label : NCSTN Gene Mutation;
NCIt synonyms : APH2 Gene Mutation; Nicastrin Gene Mutation; ATAG1874 Gene Mutation; Anterior Pharynx-Defective 2 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the NCSTN gene.;
NCI Metathesaurus CUI : CL971663;
Origin ID : C166411;
UMLS CUI : C5237965;
Semantic type(s)
molecular_abnormality_involves_gene