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Reference

Title Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
Authors Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF
Reference Neurology 60: 22-26, 2003 (PubMed ID: 12525712 )
LITAF: (Gly112Ser) (Thr115Asn) (Trp116Gly)
Mutations

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