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Mutation Report for: Ex.10-11del_human-CEL

Ex.10-11del_human-CEL
Gene_Locus|human-CEL
Mode of mutation|
Amino Acid change|
Torpedo number|
Summary|
    Comment|patients 1 carried novel heterozygous delition of exons 10 and 11 and had low levels of CEL transcripts compared with their unaffected family members carrying the full-length CEL
    Kinetic parameters|none


    References:
      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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