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Mutation Report for: R107Efs_human-ABHD12

Name Class
R107Efs_human-ABHD12Gene_locushuman-ABHD12
Mode_of_mutationNatural mutant
PaperNishiguchi_2014_Ophthalmology_121_1620
DiseasePHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
CommentDeletion Heterozygous Arg107Glufs*8 c.319delA Exon 3

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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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