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Mutation Report for: E943GfsX22_human-LIPE

Name Class
E943GfsX22_human-LIPEGene_locushuman-LIPE
Mode_of_mutationNatural mutant
PaperSollier_2021_Eur.J.Endocrinol_184_155
Commentc.2828del; p.(Glu943Glyfs*22) E943GfsX22. Patient A was homozygous for the frameshift

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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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