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Mutation Report for: L631GfsX57_human-LIPE

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|Patient B was compound heterozygous for two frameshift variants: c.1890_1891del; p.(Leu631Glyfs*57) L631GfsX57, and c.2077del; p.(Arg693Valfs*76) R693VfsX76
    Kinetic parameters|none

      Title: LIPE-related lipodystrophic syndrome: clinical characteristics and disease modelling using adipose stem cells
      Sollier C, Capel E, Aguilhon C, Smirnov V, Auclair M, Douillard C, Ladsous M, Defoort-Dhellemmes S, Gorwood J and Jeru I <6 more author(s)>
      Ref: European Journal of Endocrinology, 184:155, 2021 : PubMed


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