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Mutation Report for: 1delVNTRsgt4_human-CEL

1delVNTRsgt4_human-CEL
Gene_Locus|human-CEL
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
Comment|One Czech case with germline mutation in CEL. single-base pair deletions in the proximal part of the CEL variable number of tandem repeat (VNTR) region in exon 11
Kinetic parameters|none


References:
    Title: Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases
    El Jellas K, Dusatkova P, Haldorsen IS, Molnes J, Tjora E, Johansson BB, Fjeld K, Johansson S, Pruhova S and Molven A <3 more author(s)>
    Ref: J Clinical Endocrinology Metab, :, 2021 : PubMed

            




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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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