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Mutation Report for: T202I_human-ABHD12
Name
Class
T202I_human-ABHD12
Gene_locus
human-ABHD12
Mode_of_mutation
Natural mutant
Paper
Nishiguchi_2014_Ophthalmology_121_1620
Disease
PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Comment
Missense Heterozygous p.Thr202Ile c.605C>T Exon 6
Send your questions or comments to :
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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