Inherited Peripheral Neuropathies Mutation Database

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Title Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Authors Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR
Reference Nat Genet 18: 382-384, 1998 (PubMed ID: 9537424 )
EGR2: ([Ile268Asn]+[Ile268Asn]) ([Ser382Arg; Asp383Tyr]) (Arg409Trp)

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