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Mutation Report for: V279F_human-PLA2G7

Name Class
V279F_human-PLA2G7Gene_locushuman-PLA2G7
Mode_of_mutationNatural mutant
Paper (32)
DiseaseSuceptibility to asthma and atopy, Platelet-activating factor acetylhydrolase (PLA2G7) deficiency (PAFAD) coronary artery disease risk factor
Commentp.V279F Val279Phe c.G994T in PAFAD; loss of function; risk factor for coronary arthery disease and stroke. rs76863441

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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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