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Mutation Report for: M385L_human-DPP6

M385L_human-DPP6
Gene_Locus|human-DPP6
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.1153A-C transversion (c.1153A-C, NM_130797) rs786205143
    Kinetic parameters|none


    References:
      Title: Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation
      Liao C, Fu F, Li R, Yang WQ, Liao HY, Yan JR, Li J, Li SY, Yang X, Li DZ
      Ref: Eur Journal of Medical Genetics, 56:484, 2013 : PubMed

              




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