C172375Level 8
Deleterious Inactivating NF1 Gene Mutation
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A mutation in the NF1 gene that is associated with an increased risk of disease and either inhibits expression or results in the translation of an inactive NF1 protein.
**Synonyms:** - Deleterious Inactivating NF1 Mutation - Deleterious Inactivating NFNS Gene Mutation - Deleterious Inactivating Neurofibromin 1 Gene Mutation - Deleterious NF1 Gene Inactivation
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