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C186360Level 5

EPAS1 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the EPAS1 gene.

**Synonyms:** - BHLHE73 Gene Mutation - Endothelial PAS Domain Protein 1 Gene Mutation - HIF-2-Alpha Gene Mutation - HIF2A Gene Mutation - HLF Gene Mutation - MOP2 Gene Mutation - PASD2 Gene Mutation

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