Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy.
Authors Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V
Reference Am J Hum Genet 72: 722-727, 2003 (PubMed ID: 12545426 )
RAB7: (Leu129Phe) (Val162Met)
Mutations

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