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Mutation Report for: A507fsX_human-LIPE

Name Class
A507fsX_human-LIPEGene_locushuman-LIPE
Mode_of_mutationNatural mutant
PaperCarboni_2014_Muscle.Nerve_49_928
Farhan_2014_Can.J.Cardiol_30_1649
DiseaseLipodystrophy, familial partial, type 6
Comment2-bp insertion in the LIPE gene. Farhan et al. (2014). The mutation caused a frameshift predicted to result in a premature termination codon (Ala507fsTer563) with an approximately 50% loss of the original polypeptide

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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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