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Mutation Report for: G430R_human-EPHX1

G430R_human-EPHX1
Gene_Locus|human-EPHX1
Mode of mutation|Natural mutant
Amino Acid change|G430R
Torpedo number|
Summary|
Comment|c.1288G>C, p.(Gly430Arg) missense variant located in exon 9: of EPHX1
Kinetic parameters|none


References:
    Title: EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence
    Gautheron J, Morisseau C, Chung WK, Zammouri J, Auclair M, Baujat G, Capel E, Moulin C, Wang Y and Jeru I <7 more author(s)>
    Ref: Elife, 10:, 2021 : PubMed

            




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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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