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Mutation Report for: CES1VAR_human-CES1

Name Class
CES1VAR_human-CES1Gene_locushuman-CES1
Mode_of_mutationNatural mutant
PaperSanford_2016_Pharmacogenet.Genomics_26_197
Wang_2016_Pharmacogenomics.J_16_220
Stage_2017_Br.J.Clin.Pharmacol_83_1506
Rasmussen_2017_Pharmacogenet.Genomics_27_78
Commenta genomic translocation of the 5' region from the poorly expressed pseudogene CES1P1, to CES1, yielding the structural variant CES1VAR
Xenobiotic_sensitivityCES-1 deficiency

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