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Mutation Report for: R262X_human-ABHD12

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|p.Arg262* c.784C > T, two siblings bilateral hearing loss and cataracts, signs of cerebellar ataxia, and neuropathy with a primarily demyelinating pattern in NCS. In one case, retinitis pigmentosa was also evident.
    Kinetic parameters|none

      Title: Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome
      Thimm A, Rahal A, Schoen U, Abicht A, Klebe S, Kleinschnitz C, Hagenacker T, Stettner M
      Ref: J Peripher Nerv Syst, :, 2020 : PubMed


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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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