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Mutation Report for: G729_T739del_human-CEL

Mode of mutation|
Amino Acid change|
Torpedo number|
    Comment|c.2187_2219del GGGT GACT CTGA GGCT GCCC CTGT GCCC CCCAC (p.G729_T739del) heterozygous in a patient and his mother. one-repeat shorter VNTR
    Kinetic parameters|none

      Title: Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes
      Wu H, Shu M, Liu C, Zhao W, Li Q, Song Y, Zhang T, Chen X, Shi Y and Xu C <3 more author(s)>
      Ref: BMJ Open Diabetes Res Care, 11:, 2023 : PubMed


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