Terminology Service for NFDI4Health

NBN Gene Mutation

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

Term info

Label

NBN Gene Mutation

Synonyms
  • AT-V1 Gene Mutation
  • AT-V2 Gene Mutation
  • ATV Gene Mutation
  • NBN Gene Mutation
  • NBS Gene Mutation
  • NBS1 Gene Mutation
  • Nijmegen Breakage Syndrome 1 Gene Mutation
  • P95 Gene Mutation
Subsets

NCIT_C118168, NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

NBN Gene Mutation

NCI META CUI

CL514427

Preferred Name

NBN Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

code

C131806