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Mutation Report for: R65X_human-ABHD12

Name Class
R65X_human-ABHD12Gene_locushuman-ABHD12
Mode_of_mutationNatural mutant
PaperEisenberger_2012_Orphanet.J.Rare.Dis_7_59
DiseasePHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
NewsJANUARY-02-2013
CommentNonsense Homozygous p.Arg65* c.193C>T Exon 2, Mutation found in a patient initially diagnosed with Usher syndrome type 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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