Preferred Label : POT1 Gene Mutation;
NCIt synonyms : Protection of Telomeres 1 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the POT1 gene.;
NCI Metathesaurus CUI : CL1793504;
Origin ID : C188481;
UMLS CUI : C5707808;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene