Terminology Service for NFDI4Health

DKC1 Gene Mutation

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A change in the nucleotide sequence of the DKC1 gene. [ ]

Term info

Label

DKC1 Gene Mutation

Synonyms
  • CBF5 Gene Mutation
  • DKC Gene Mutation
  • DKC1 Gene Mutation
  • DKCX Gene Mutation
  • Dyskerin Pseudouridine Synthase 1 Gene Mutation
  • NAP57 Gene Mutation
  • NOLA4 Gene Mutation
  • XAP101 Gene Mutation
Subsets

NCIT_C118168, NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

DKC1 Gene Mutation

NCI META CUI

CL553287

Preferred Name

DKC1 Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

code

C152079