Terminology Service for NFDI4Health

PKLR Gene Mutation

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

Term info

Label

PKLR Gene Mutation

Synonyms
  • PK1 Gene Mutation
  • PKL Gene Mutation
  • PKLR Gene Mutation
  • PKR Gene Mutation
  • PKRL Gene Mutation
  • Pyruvate Kinase L/R Gene Mutation
  • Pyruvate Kinase, Liver and RBC Gene Mutation
  • RPK Gene Mutation
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

PKLR Gene Mutation

NCI META CUI

CL936908

Preferred Name

PKLR Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

code

C157141