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Mutation Report for: V95M_human-LIPC

Name Class
V95M_human-LIPCGene_locushuman-LIPC
Mode_of_mutationNatural mutant
Paper (5)
DiseaseHepatic triglyceride lipase Deficiency
Commentp.V95M Val95Met c.283 G>A (p.V73M Val73Met in the mature protein without the 22 amino-acids of signal peptide) rs6078

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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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