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Mutation Report for: G729_T739del_human-CEL

Name Class
DiseaseMaturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8
Commentc.2187_2219del GGGT GACT CTGA GGCT GCCC CTGT GCCC CCCAC (p.G729_T739del) heterozygous in a patient and his mother. one-repeat shorter VNTR

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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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