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Mutation Report for: P2202R_human-TG

P2202R_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.P2202R Pro2202Arg c.6605C>G (p.P2183R Pro2183Arg without 19-amino-acid signal peptide)
    Kinetic parameters|none


    References:
      Title: New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism
      Citterio CE, Machiavelli GA, Miras MB, Gruneiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Munoz L and Targovnik HM <4 more author(s)>
      Ref: Mol Cell Endocrinol, 365:277, 2013 : PubMed

              




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