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Mutation Report for: R693VfsX76_human-LIPE

Name Class
R693VfsX76_human-LIPEGene_locushuman-LIPE
Mode_of_mutationNatural mutant
PaperSollier_2021_Eur.J.Endocrinol_184_155
CommentPatient B was compound heterozygous for two frameshift variants: c.1890_1891del; p.(Leu631Glyfs*57) L631GfsX57, and c.2077del; p.(Arg693Valfs*76) R693VfsX76

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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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