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Mutation Report for: L193Sfs_human-SERAC1

L193Sfs_human-SERAC1
Gene_Locus|human-SERAC1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|frameshift c.576delT p. leu193Serfs*9
    Kinetic parameters|none


    References:
      Title: Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
      Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C and de Brouwer AP <24 more author(s)>
      Ref: Nat Genet, 44:797, 2012 : PubMed

              




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