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C167059Level 6

NF1 NM_001042492.2:c.4394A>G

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A nucleotide substitution at position 4394 of the coding sequence of the NF1 gene where adenine has been mutated to guanine.

**Synonyms:** - NF1 c.4394A>G - NFNS c.4394A>G - NM_001042492.2:c.4394A>G - Neurofibromin 1 c.4394A>G

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