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Mutation Report for: F40EfsX27_human-SPG21

Gene_Locushuman-SPG21 Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.F40EfsX27 p.Phe40GlufsTer27 homozygous single base deletion c.118delC. first Italian family with SPG21 Cognitive decline prevailing on spastic paraparesis component
    References
      Title: Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21
      Scarlato M, Citterio A, Barbieri A, Godi C, Panzeri E, Bassi MT
      Ref: Journal of Neurology, 264:2021, 2017 : PubMed

              


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